O15553
SS
Gene name |
MEFV |
Protein name |
Pyrin |
Names |
Marenostrin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4210 |
EC number |
|
Protein Class |
|
Descriptions
(Annotation from UniProt)
The B box-type zinc finger interacts, possibly intramolecularly, with the pyrin domain. This may be an autoinhibitory mechanism released by PSTPIP1 binding.
Autoinhibitory domains (AIDs)
Target domain |
1-92 (Pyrin domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
Autoinhibited structure
Activated structure
997 variants for O15553
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000797888 rs747811800 |
22 | E>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394483782 RCV001310311 RCV001871759 rs1422054832 |
67 | V>M | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001339996 rs1959115695 |
68 | Q>* | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247730 rs1959115414 |
72 | Q>* | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001121438 RCV000215498 rs145015653 CA7860501 |
78 | N>S | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001273730 RCV001561342 rs201075710 CA7860497 RCV000781524 |
80 | R>H | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150819742 RCV000779184 CA7860493 RCV001002344 |
84 | E>K | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs150819742 RCV002041254 CA7860492 |
84 | E>Q | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1959114310 RCV001297649 |
87 | H>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1959114278 RCV001240947 |
89 | A>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000083765 CA280577 rs104895124 |
89 | A>T | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000293866 CA7860464 rs747515115 |
97 | Q>* | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000514677 rs747515115 RCV000632795 CA7860463 |
97 | Q>K | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001348927 rs1342717419 CA394482671 |
101 | T>A | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs151306047 CA7860459 RCV000701319 |
104 | S>C | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000049560 rs387907569 CA280329 |
105 | A>E | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000765292 rs104895103 CA280583 VAR_028327 RCV000586697 RCV000083767 |
108 | S>R | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs751454741 RCV000495851 CA7860454 |
111 | G>E | Behcet disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001201760 RCV000756333 rs112739451 CA276903197 |
111 | G>R | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs104895109 RCV000083770 |
112 | E>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394482301 RCV000694177 rs1252844849 |
114 | K>E | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000221844 RCV000083246 rs147557169 CA280349 |
115 | P>T | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA276903153 rs1000657059 RCV001027834 |
119 | K>N | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000148289 RCV000589662 rs587783379 CA280902 |
123 | H>Q | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001117890 rs1390689550 CA394481991 |
126 | G>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000989487 CA394481929 rs201172310 |
128 | E>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7860442 RCV001117889 rs780976880 |
130 | N>K | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1959090017 RCV001117888 |
133 | R>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7860439 rs766323718 RCV001065276 |
135 | Y>* | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000218405 CA10577526 rs876660989 RCV000688336 |
136 | G>E | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs104895130 RCV000083774 CA280601 |
141 | S>I | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104895190 CA280604 RCV000083775 |
143 | R>P | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10577525 rs876660990 RCV000222115 RCV000818575 RCV000781527 |
146 | Q>* | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000002663 CA280120 rs104895076 VAR_028328 RCV000216721 RCV000415966 |
148 | E>V | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001830114 rs1959088372 RCV001293565 |
150 | G>R | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
CA280607 rs104895185 RCV000083776 |
151 | R>S | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000218924 rs756975501 RCV000695122 CA7860420 RCV001193204 RCV001731531 |
154 | S>P | Familial Mediterranean fever, autosomal dominant Familial mediterranean fever (fmf) Familial Mediterranean fever [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA280887 rs483353017 RCV000119309 |
155 | R>T | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000083777 CA280610 VAR_028329 rs104895106 |
163 | E>A | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000432274 RCV001835805 CA7860418 rs759997694 |
163 | E>D | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs759918824 CA7860419 RCV000222553 RCV001828091 |
163 | E>Q | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000823110 rs1306636942 CA394481203 |
164 | K>* | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001240669 rs766670643 CA7860417 |
166 | S>L | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs104895211 RCV000083778 CA280612 RCV000220620 |
172 | Q>P | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
CA394480989 rs777199024 RCV001303574 |
174 | K>E | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000083779 CA280615 rs104895126 |
175 | P>H | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000520666 RCV001834689 rs1555459404 CA394480937 |
178 | R>W | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs104895125 RCV000083781 CA280620 |
179 | S>I | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA276902697 RCV000632793 rs104895134 |
180 | P>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001828169 RCV001420805 rs104895134 CA10588616 |
180 | P>Q | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA280623 rs104895134 RCV000083782 |
180 | P>R | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000213498 rs202196752 CA7860401 RCV001247010 |
183 | P>T | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA394479613 rs1266566289 RCV000689990 |
185 | G>R | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001819938 RCV001239806 rs761993422 |
189 | G>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1242505 rs200766991 CA7860390 RCV001053067 |
195 | E>D | oesophagus Familial Mediterranean fever [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs104895179 CA7860388 RCV000807223 |
196 | G>R | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765450054 CA276902575 RCV000989486 |
197 | G>R | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001346636 rs1567237352 |
200 | E>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491523 CA7860378 rs775663363 |
204 | R>H | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000083785 rs104895180 |
208 | S>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
CA280636 rs104895181 RCV000083788 |
225 | E>D | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_016826 RCV000083789 COSM970394 RCV000213898 CA280639 rs104895080 |
230 | E>K | Familial mediterranean fever (fmf) arFMF endometrium Familial Mediterranean fever [Ensembl, UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA280332 rs104895080 RCV000049561 |
230 | E>Q | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000083790 rs104895205 CA280641 |
232 | Y>H | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs104895159 CA280644 RCV000083791 |
236 | G>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000083793 RCV001174523 RCV001172095 VAR_084466 rs104895127 CA280650 |
242 | S>R | Familial mediterranean fever (fmf) PAAND; results in constitutive inflammasome activation; increased PYCARD/ASC specks formation; increased caspase-1 activation and IL1B production; loss of S-242 phosphorylation; loss of interaction with 14-3-3 proteins Acute febrile neutrophilic dermatosis Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000083792 CA280647 rs104895127 RCV001804836 |
242 | S>R | Familial Mediterranean fever, autosomal dominant Familial mediterranean fever (fmf) Familial Mediterranean fever [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001174525 rs1959081392 |
244 | E>K | Acute febrile neutrophilic dermatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_072383 CA394477984 rs1472692347 RCV000989485 |
247 | I>V | arFMF; unknown pathological significance Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs104895111 RCV000083795 RCV001701743 CA280654 |
251 | E>K | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs104895138 RCV000083796 |
256 | N>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394477733 rs1567237118 RCV000698862 |
256 | N>D | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA280658 rs104895144 RCV000587366 RCV000083797 RCV001000132 |
259 | I>V | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755178462 RCV001833228 RCV000221112 CA7860328 |
266 | K>E | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104895081 RCV000991330 RCV000996177 VAR_009054 RCV000002653 CA280101 RCV001535446 |
267 | T>I | Familial Mediterranean fever, autosomal dominant Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000083798 rs104895123 CA280661 |
268 | A>V | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000119311 RCV000523393 CA280893 rs483353019 COSM1377707 |
273 | S>L | large_intestine Familial Mediterranean fever [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001052237 CA7860319 rs775020273 |
276 | E>D | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA280664 RCV000083799 rs104895187 |
278 | R>P | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA280670 RCV000083801 rs104895119 VAR_072384 |
283 | P>L | arFMF; unknown pathological significance Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs104895119 RCV000765291 RCV000221070 RCV000083800 CA280667 |
283 | P>R | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA280335 rs387907567 RCV000049562 |
288 | S>Y | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA280338 RCV000049563 rs104895132 |
289 | A>E | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs104895132 RCV000083802 CA280673 RCV000594000 |
289 | A>V | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000806158 rs1301893365 |
296 | G>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
CA280676 RCV000083803 rs104895167 |
299 | E>G | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000030187 CA280283 rs104895204 |
314 | R>H | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_028331 RCV000083807 COSM1708672 COSM1708671 rs104895110 CA280684 |
319 | E>K | Familial mediterranean fever (fmf) arFMF skin Familial Mediterranean fever [Ensembl, UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000083808 rs104895203 CA280686 |
328 | V>A | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053548 rs1379609898 CA394471368 |
332 | C>Y | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs483353018 RCV000119310 CA280890 |
338 | V>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA280241 rs104895157 RCV000366739 RCV000030169 |
339 | S>F | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000417776 CA280361 COSM75396 RCV000755567 rs104895198 COSM1377702 RCV000083679 |
348 | R>H | ovary Familial mediterranean fever (fmf) large_intestine Familial Mediterranean fever [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001276301 CA7860243 rs763015849 RCV000632792 RCV000588244 |
354 | R>Q | Familial Mediterranean fever, autosomal dominant Familial mediterranean fever (fmf) Familial Mediterranean fever [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM2918984 CA280367 rs104895116 RCV000083681 COSM2918983 |
354 | R>W | Familial mediterranean fever (fmf) oesophagus Familial Mediterranean fever [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000214481 CA7860240 rs377754606 RCV001833230 |
356 | Q>E | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs190405488 RCV000148029 CA280896 |
361 | R>T | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA280373 rs104895214 RCV000083683 |
364 | P>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001805036 CA16044017 RCV000416346 rs1057519328 |
367 | L>V | Behcet disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7860232 RCV001174702 rs11466023 RCV001121353 |
369 | P>T | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000989484 CA394470203 rs1218172738 |
372 | L>P | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000685317 CA394470181 rs1567234649 |
373 | P>S | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632794 CA276898837 rs896909303 |
377 | R>C | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001175243 rs896909303 |
377 | R>G | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000083684 CA280376 rs104895188 |
383 | Q>K | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7860226 rs139313647 RCV000820957 RCV001281042 |
384 | L>P | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs786205886 CA280910 RCV000172873 |
389 | D>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000416328 CA7860216 rs755659290 |
404 | H>R | Behcet disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394469353 rs11466024 RCV000532782 RCV001591200 |
408 | R>L | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7860213 COSM1470842 COSM1470843 RCV000540246 rs758868622 |
408 | R>W | prostate Familial Mediterranean fever [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104895149 RCV000083691 CA280389 |
423 | I>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1958988591 RCV001119341 |
435 | K>Q | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779558690 RCV001216264 CA7860182 |
442 | S>T | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000219419 RCV000632789 rs749651486 CA7860180 |
446 | E>A | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000780408 CA394465166 rs1567233429 RCV001825528 |
456 | E>D | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA280392 rs104895151 RCV000083692 RCV000512979 |
457 | A>V | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7860136 rs758485822 RCV001278367 |
467 | E>K | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7860134 RCV000587068 RCV000336657 rs778686119 |
469 | V>A | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001553681 CA280395 rs104895173 RCV000083693 |
469 | V>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs104895207 CA280398 RCV000083694 |
471 | Y>* | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_028332 rs104895104 RCV000083695 CA280401 |
474 | E>K | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs104895105 RCV000083696 CA115610 RCV001562614 VAR_028333 RCV000002666 |
478 | H>Y | Familial Mediterranean fever, autosomal dominant adFMF; severe Familial Mediterranean fever [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104895100 CA7860122 RCV000531412 RCV000439116 |
487 | V>L | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs104895100 CA280403 RCV000083697 |
487 | V>M | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000989482 CA394464159 rs1596352746 |
488 | G>D | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs104895101 RCV001175537 RCV001833735 CA7860115 |
501 | R>C | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104895101 CA280409 RCV000083699 |
501 | R>G | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA280412 rs104895196 RCV000083700 |
501 | R>H | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7860114 rs140462252 RCV000632788 COSM1377696 COSM1377697 |
502 | V>I | large_intestine Familial Mediterranean fever [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs190705322 RCV001775848 RCV000530643 CA7860112 |
503 | S>C | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV000336445 rs150730718 CA10637690 |
505 | D>Y | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs104895186 CA280415 RCV000083701 |
506 | I>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001228467 CA7860109 rs200557537 |
510 | D>N | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs104895199 CA280418 RCV000083702 |
513 | I>T | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000083703 CA280421 rs104895168 |
514 | G>E | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044448 rs1958911254 |
540 | T>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs922232615 CA276896167 RCV001829616 RCV000587448 |
541 | V>A | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175245 rs1958911016 |
543 | V>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104895113 CA280425 RCV000083705 |
559 | L>F | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394490502 RCV000989481 rs1057516210 |
577 | T>S | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_070797 rs104895193 CA280429 RCV000083707 |
577 | T>S | probable disease-associated variant found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM212534 rs574055513 CA7860007 RCV000285033 |
579 | R>H | Familial Mediterranean fever breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000083708 CA280431 rs104895165 |
582 | M>L | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780770024 RCV000632791 CA7859928 |
594 | Q>* | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000989479 CA394488295 rs1332372034 |
614 | S>F | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs766576175 RCV000989478 CA394488199 |
618 | K>N | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000223444 RCV000801477 rs876660997 |
630 | P>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs967990798 CA276955246 VAR_072386 RCV000989476 |
632 | G>A | arFMF; unknown pathological significance Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000534641 CA276955244 rs976279218 |
633 | P>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001278366 rs1958893897 |
633 | P>T | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
CA280314 RCV000049555 rs387907568 |
637 | D>G | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_028336 RCV000083720 CA280461 rs104895115 |
640 | I>M | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_028337 RCV000083721 CA280463 rs104895147 |
641 | I>F | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_028338 RCV000083722 rs104895107 COSM3387416 CA280465 |
646 | P>L | arFMF pancreas Familial Mediterranean fever [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA280470 RCV000083724 rs104895108 VAR_028339 |
649 | L>P | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA280317 RCV000049556 rs142748016 |
650 | S>Y | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000587289 RCV001276186 CA7859890 rs375716505 |
653 | R>C | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000083727 rs104895086 VAR_028340 CA280478 |
656 | E>A | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1958892149 RCV001323485 |
657 | V>M | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104895212 RCV000083728 CA280480 |
659 | V>F | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000083729 rs104895120 VAR_028341 CA280483 |
661 | D>N | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001827156 rs387907566 CA7859885 RCV001002108 |
666 | I>F | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs387907566 RCV000049557 CA280320 |
666 | I>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000768022 rs104895087 CA280485 VAR_016829 RCV000083730 |
675 | S>N | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104895088 RCV000414076 RCV000083731 VAR_028342 CA280487 |
678 | G>E | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA280489 VAR_016830 rs104895089 RCV000083732 |
680 | M>L | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104895090 RCV000083733 VAR_009059 CA280491 |
681 | T>I | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1355225244 RCV000700800 |
682 | L>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375378545 RCV001278365 |
685 | E>D | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783378 RCV000148035 CA280899 |
685 | E>K | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA280323 RCV000216370 rs387907570 RCV000049558 |
687 | G>D | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA280496 RCV000083735 VAR_028344 rs104895122 |
688 | Y>C | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA394486275 rs1281153557 RCV001121251 |
690 | V>L | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1596350035 RCV000797275 CA915949043 |
692 | I>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs104895215 CA280504 RCV000083738 |
693 | M>I | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394486120 RCV000989475 VAR_070798 rs1596350022 |
694 | M>K | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61752717 VAR_028345 CA280507 RCV000083739 |
694 | M>L | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA280512 RCV000083741 rs104895094 VAR_028346 |
695 | K>M | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA280514 RCV000083742 RCV001001442 rs104895208 |
695 | K>N | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_028347 CA280520 RCV000083744 rs104895166 |
702 | S>C | one patient with familial Mediterranean fever Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001048846 rs748891586 CA7859873 |
704 | V>G | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1377690 CA280526 RCV000083746 VAR_028348 rs104895096 |
704 | V>I | arFMF large_intestine Familial Mediterranean fever [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs104895145 CA280528 RCV000083747 VAR_028349 |
705 | P>S | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000083748 rs104895202 CA280530 RCV000780404 |
708 | R>C | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA280533 rs104895184 RCV000083749 |
709 | L>R | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000989474 CA394485715 rs1596349932 |
716 | K>M | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM308079 CA276955068 RCV000989473 rs545517350 |
717 | R>H | biliary_tract Familial Mediterranean fever breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7859866 RCV000989472 rs545517350 RCV001002516 |
717 | R>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104895192 CA280536 RCV000083750 |
717 | R>S | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_028350 rs104895102 CA280539 RCV000083751 |
720 | I>M | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1023300125 RCV001121250 CA276955063 |
720 | I>V | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA280541 RCV000083752 RCV001175016 rs104895201 RCV001701661 |
722 | V>M | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA280550 RCV000083755 rs104895152 VAR_028351 |
743 | F>L | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10577516 rs876661026 RCV000214222 RCV001833229 |
743 | F>L | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000083754 rs104895216 CA280547 |
743 | F>Y | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA280555 rs104895171 COSM703098 RCV000520754 RCV000083757 |
749 | S>C | lung Familial Mediterranean fever [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs104895171 RCV001119245 CA7859847 |
749 | S>Y | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000083759 RCV001562685 CA280561 rs104895194 |
755 | I>V | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_028352 RCV000083760 rs104895114 CA280564 |
758 | P>S | arFMF Familial Mediterranean fever [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs774807554 RCV000989471 CA394484687 |
761 | R>S | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA280326 RCV000049559 rs387907565 |
769 | P>A | Familial Mediterranean fever [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001317576 rs757708595 |
771 | T>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223191 CA280566 RCV000083761 rs104895163 |
772 | I>V | Familial mediterranean fever (fmf) Familial Mediterranean fever [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000554423 rs753946287 |
777 | G>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596349724 RCV000989469 |
778 | Q>missing | Familial Mediterranean fever [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000083763 rs104895154 RCV000217446 VAR_028353 CA280572 |
780 | P>T | Familial mediterranean fever (fmf) arFMF Familial Mediterranean fever [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA276904651 rs200148051 |
2 | A>G | No |
ClinGen TOPMed |
|
|
rs1242183891 CA394487003 |
2 | A>S | No |
ClinGen Ensembl |
|
|
CA276904648 rs200148051 |
2 | A>V | No |
ClinGen TOPMed |
|
|
rs975892709 CA394486932 |
4 | T>A | No |
ClinGen TOPMed |
|
|
rs1386260680 CA394486930 |
4 | T>N | No |
ClinGen gnomAD |
|
|
CA276904638 rs975892709 |
4 | T>S | No |
ClinGen TOPMed |
|
|
CA7860553 rs775861390 |
5 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775861390 CA7860554 |
5 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399005998 CA394485874 |
6 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10577529 rs772221366 RCV000219881 |
6 | S>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA276904610 rs149693562 |
11 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs533833365 CA7860551 |
12 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394485619 rs1596360011 |
13 | L>Q | No |
ClinGen Ensembl |
|
|
CA7860550 rs139448379 |
13 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206802336 CA394485459 |
17 | V>L | No |
ClinGen gnomAD |
|
|
rs1206802336 CA394485464 |
17 | V>M | No |
ClinGen gnomAD |
|
|
CA276904577 rs538078075 |
18 | P>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs769605806 CA7860547 |
19 | Y>C | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA276904574 rs879739051 |
19 | Y>D | No |
ClinGen TOPMed |
|
|
rs769605806 CA394485361 |
19 | Y>F | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
| rs1567238892 | 19 | Y>FYF* | No | Ensembl | |
|
rs1567238891 CA919641903 |
20 | D>A | No |
ClinGen Ensembl |
|
|
CA7860546 rs747728640 |
20 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7860544 rs145289162 |
22 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7860540 rs751006121 |
23 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7860541 rs754679070 |
23 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA394485103 rs1357615824 |
24 | F>V | No |
ClinGen TOPMed |
|
|
CA276904550 rs924530771 |
25 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA276904559 COSM1257586 COSM1257585 rs924530771 |
25 | K>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs779667910 CA7860539 |
26 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1177531648 CA394485016 |
26 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757658888 CA7860538 |
28 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394484903 rs1256950394 |
29 | Q>* | No |
ClinGen TOPMed |
|
|
rs1241661680 CA394484833 |
31 | T>I | No |
ClinGen gnomAD |
|
|
rs139799330 CA7860536 |
32 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280289 VAR_048398 rs11466016 |
33 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA276904511 rs974362468 |
36 | E>G | No |
ClinGen Ensembl |
|
|
CA276904521 rs370338872 |
36 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs1214854554 CA394484650 |
37 | H>L | No |
ClinGen gnomAD |
|
|
rs1383626535 CA394484665 |
37 | H>Y | No |
ClinGen TOPMed |
|
|
rs141288548 RCV000586069 CA7860532 |
39 | R>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1294852343 CA394484577 |
39 | R>S | No |
ClinGen gnomAD |
|
|
rs141288548 CA394484589 |
39 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596359900 CA394484523 |
41 | P>R | No |
ClinGen Ensembl |
|
|
rs773202425 CA7860529 |
42 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_028326 rs61754767 CA7860530 |
42 | R>W | arFMF [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000996179 CA7860528 rs769518848 |
43 | S>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1447799643 CA394484497 |
43 | S>R | No |
ClinGen gnomAD |
|
|
CA394484473 rs1172820862 |
44 | Q>E | No |
ClinGen gnomAD |
|
|
CA7860527 rs747920632 |
46 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7860526 rs776473244 |
47 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA394484327 rs1166849597 |
48 | A>S | No |
ClinGen gnomAD |
|
|
CA394484252 rs1243710109 |
50 | P>A | No |
ClinGen gnomAD |
|
|
CA7860525 rs144716190 |
50 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243710109 CA394484248 |
50 | P>S | No |
ClinGen gnomAD |
|
|
CA394484208 rs1234329505 |
51 | V>L | No |
ClinGen gnomAD |
|
|
rs1306619372 CA394484145 |
52 | K>N | No |
ClinGen gnomAD |
|
|
rs1272013594 CA394484129 |
53 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394484073 rs1401864497 |
54 | A>G | No |
ClinGen Ensembl |
|
|
CA7860523 rs757933176 |
55 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7860522 rs757933176 |
55 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1353284079 CA394484009 |
56 | L>V | No |
ClinGen TOPMed |
|
|
rs372477251 CA7860521 |
58 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1959116488 RCV001260305 |
59 | T>S | No |
ClinVar dbSNP |
|
|
rs371505752 CA7860518 |
60 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756753159 CA7860520 |
60 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs756753159 CA7860519 |
60 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs755200391 CA276904447 |
61 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860517 rs768043268 |
61 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs755200391 CA7860516 |
61 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765151968 CA394483796 |
66 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765151968 CA7860512 |
66 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276904401 rs267604535 |
66 | A>V | No |
ClinGen Ensembl |
|
|
COSM1470840 rs768473920 COSM1470841 CA7860509 |
68 | Q>* | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394483741 rs1480168640 |
69 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7860507 rs775224100 |
70 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1596359762 CA394483725 |
70 | T>P | No |
ClinGen Ensembl |
|
|
CA7860505 rs376891162 |
75 | R>Q | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA276904353 rs1042945356 |
75 | R>W | No |
ClinGen gnomAD |
|
|
rs756665512 CA7860503 |
77 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA7860504 rs778607233 |
77 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000217942 rs145015653 CA10577528 |
78 | N>I | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
COSM1519248 COSM1519249 CA7860500 rs755372668 |
78 | N>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA394483586 rs145015653 |
78 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7860499 rs751671376 |
79 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs766608226 CA7860498 |
80 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA394483530 rs1472154255 |
81 | L>P | No |
ClinGen gnomAD |
|
|
CA7860495 rs551547658 |
82 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394483510 rs1201136546 |
83 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1346006078 CA394483481 |
84 | E>D | No |
ClinGen TOPMed |
|
|
rs760507030 CA7860491 |
86 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs943533562 CA276904301 |
88 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA276904292 rs376971129 |
90 | A>P | No |
ClinGen ESP TOPMed |
|
|
rs370801391 CA7860490 |
90 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7860489 rs138498376 |
93 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762535762 RCV000627309 CA394482872 |
94 | Y>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs772921403 CA7860465 |
95 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276903285 rs772921403 |
95 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463263180 CA394482864 |
95 | S>P | No |
ClinGen gnomAD |
|
|
CA394482830 rs1167470161 |
96 | T>I | No |
ClinGen gnomAD |
|
|
CA276903284 rs1030478563 |
96 | T>P | No |
ClinGen Ensembl |
|
|
CA394482820 rs747515115 |
97 | Q>E | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA394482735 rs1286263553 |
99 | N>S | No |
ClinGen TOPMed |
|
|
CA7860462 rs772332566 |
100 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA394482704 rs772332566 |
100 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs757543348 RCV000221488 CA7860460 |
103 | D>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1252082777 CA394482589 |
103 | D>V | No |
ClinGen gnomAD |
|
|
CA7860457 rs756029520 |
107 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104895103 CA7860456 |
108 | S>G | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1392896887 CA394482460 |
108 | S>N | No |
ClinGen gnomAD |
|
|
rs1392896887 CA394482456 |
108 | S>T | No |
ClinGen gnomAD |
|
|
rs11466018 VAR_016824 CA201524 |
110 | L>P | arFMF [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA276903193 rs112739451 |
111 | G>W | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA394482352 rs1185925415 |
112 | E>K | No |
ClinGen gnomAD |
|
|
rs1567237774 CA394482323 |
113 | N>S | No |
ClinGen Ensembl |
|
|
CA394482287 rs981883034 |
114 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201766654 CA394482268 |
115 | P>L | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7860452 rs201766654 |
115 | P>R | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7860453 rs147557169 |
115 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1210496765 CA394482264 |
116 | R>G | No |
ClinGen gnomAD |
|
|
rs761181557 CA7860451 |
116 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA394482260 rs1355616582 |
116 | R>T | No |
ClinGen gnomAD |
|
|
rs1210496765 CA394482263 |
116 | R>W | No |
ClinGen gnomAD |
|
|
rs775879374 CA7860450 |
120 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772698222 CA7860449 RCV000590076 |
120 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA394482100 rs1407541437 |
122 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
RCV000214772 rs876660988 CA10577527 |
122 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs774737550 CA394482082 |
123 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs774737550 CA7860447 |
123 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA394482045 COSM1172328 rs1404215402 |
125 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1390689550 CA394481985 |
126 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1567237732 CA394482007 |
126 | G>R | No |
ClinGen Ensembl |
|
|
rs1356077187 CA394481949 |
127 | N>K | No |
ClinGen TOPMed |
|
|
CA394481963 rs1471371733 |
127 | N>S | No |
ClinGen gnomAD |
|
|
rs368981831 CA394481946 |
128 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276903084 rs201172310 |
128 | E>G | No |
ClinGen Ensembl |
|
|
rs368981831 CA7860444 |
128 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368981831 CA7860443 |
128 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394481890 rs1471767302 |
129 | G>E | No |
ClinGen gnomAD |
|
|
rs1344302872 CA394481901 |
129 | G>R | No |
ClinGen TOPMed |
|
|
CA394481853 rs780976880 |
130 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394481843 rs1451069693 |
131 | G>R | No |
ClinGen gnomAD |
|
|
CA394481809 rs1287668923 |
132 | P>L | No |
ClinGen gnomAD |
|
|
rs1206762845 CA394481797 COSM3690981 |
133 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs377250147 COSM471689 CA7860441 |
134 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA16607413 RCV000427228 rs377250147 |
134 | P>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1461620831 CA394481784 |
134 | P>S | No |
ClinGen TOPMed |
|
|
CA276903011 rs145078602 |
135 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs145078602 CA276903017 |
135 | Y>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758072895 CA7860438 |
136 | G>R | No |
ClinGen ExAC |
|
|
rs876660989 CA394481717 |
136 | G>V | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen gnomAD |
|
CA276902991 rs895839095 |
137 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7860437 rs750051449 |
137 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA394481710 rs895839095 |
137 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394481701 rs750051449 |
137 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7860433 rs764748463 |
138 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs575678784 CA7860430 |
139 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7860431 rs767981482 |
139 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567237666 CA891862990 RCV000722509 |
139 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394481656 rs1015345944 |
140 | A>P | No |
ClinGen Ensembl |
|
|
CA276902952 rs1015345944 |
140 | A>T | No |
ClinGen Ensembl |
|
|
rs1191942097 CA394481649 |
141 | S>G | No |
ClinGen gnomAD |
|
|
rs1195408253 CA394481618 |
142 | L>P | No |
ClinGen gnomAD |
|
|
CA7860428 rs104895190 |
143 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218212372 CA394481561 |
144 | C>W | No |
ClinGen gnomAD |
|
|
CA7860427 rs773320625 |
144 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1342434040 CA394481546 |
145 | S>N | No |
ClinGen gnomAD |
|
|
rs1271491773 CA394481538 |
145 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1271491773 CA394481532 |
145 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1342434040 CA394481545 |
145 | S>T | No |
ClinGen gnomAD |
|
|
CA394481521 rs876660990 |
146 | Q>E | No |
ClinGen TOPMed |
|
|
RCV000215134 CA10577524 rs876660991 |
147 | P>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA394481505 rs876660991 |
147 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394481497 rs876660991 |
147 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000223609 rs876660992 |
148 | E>missing | No |
ClinVar dbSNP |
|
|
CA394481484 rs3743930 |
148 | E>* | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA276902893 rs104895076 |
148 | E>A | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA394481486 rs3743930 |
148 | E>K | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_009051 CA280097 rs3743930 |
148 | E>Q | Familial mediterranean fever (fmf) arFMF and adFMF; likely benign variant; associated with S-369 and Q-408 in cis; associated with I-694 in some patients [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394481467 rs1433380029 |
149 | A>T | No |
ClinGen gnomAD |
|
|
CA7860425 rs754940931 |
151 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10605320 rs886043273 RCV000302718 |
151 | R>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7860424 rs567036095 |
152 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567036095 CA7860423 |
152 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1266119651 CA394481423 |
152 | G>R | No |
ClinGen TOPMed |
|
|
rs1389511101 CA394481376 |
154 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1389511101 CA394481373 |
154 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394481365 rs483353017 |
155 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394481352 rs1462493287 |
156 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1293182298 CA394481307 |
158 | L>P | No |
ClinGen TOPMed |
|
|
rs797001768 CA276902835 |
159 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394481250 rs1220047688 |
161 | R>G | No |
ClinGen gnomAD |
|
|
CA276902832 rs374425680 |
161 | R>H | No |
ClinGen Ensembl |
|
|
CA394481214 rs104895106 |
163 | E>G | No |
ClinGen gnomAD |
|
|
CA394481205 rs1306636942 |
164 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394481200 rs1297530320 |
164 | K>R | No |
ClinGen gnomAD |
|
|
rs1226746393 CA394481190 |
165 | A>S | No |
ClinGen gnomAD |
|
|
CA280099 VAR_009052 rs104895079 |
167 | E>D | Familial mediterranean fever (fmf) arFMF [Ensembl, UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA394481133 rs1357681354 |
167 | E>Q | No |
ClinGen gnomAD |
|
|
rs773691555 CA7860415 |
167 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7860413 rs776800797 |
168 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1389566152 CA394481103 |
168 | G>S | No |
ClinGen gnomAD |
|
|
CA7860414 rs776800797 |
168 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7860411 rs746888008 |
169 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs772206956 CA7860409 |
170 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1482444555 CA394481024 |
171 | A>E | No |
ClinGen gnomAD |
|
|
CA394481026 rs876660993 |
171 | A>S | No |
ClinGen gnomAD |
|
|
CA10577522 rs876660993 RCV000216945 |
171 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1482444555 CA394481022 |
171 | A>V | No |
ClinGen gnomAD |
|
|
CA394481004 rs1487264767 |
172 | Q>H | No |
ClinGen TOPMed |
|
|
CA394481018 rs1224053177 |
172 | Q>K | No |
ClinGen gnomAD |
|
|
rs104895211 CA7860407 |
172 | Q>L | No |
ClinGen ExAC TOPMed |
|
|
rs1314021067 CA394480994 |
173 | G>D | No |
ClinGen gnomAD |
|
|
rs753560161 CA7860405 |
173 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777199024 CA7860404 |
174 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA394480963 rs104895126 |
175 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276902735 rs867194973 |
175 | P>S | No |
ClinGen gnomAD |
|
|
rs867194973 CA394480975 |
175 | P>T | No |
ClinGen gnomAD |
|
|
rs1410743123 CA394480958 |
176 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs104895143 VAR_028330 CA280618 |
177 | T>I | Familial mediterranean fever (fmf) arFMF [Ensembl, UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
|
CA7860403 rs752261692 |
178 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104895125 CA7860402 |
179 | S>N | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA394480895 rs1409806757 |
181 | A>D | No |
ClinGen gnomAD |
|
|
rs777009752 CA7860399 |
183 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777009752 CA394479647 |
183 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860400 rs777009752 |
183 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202196752 CA394479654 |
183 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394479617 rs1201005469 |
184 | G>D | No |
ClinGen gnomAD |
|
|
CA394479607 rs1221398722 |
185 | G>E | No |
ClinGen gnomAD |
|
|
rs1320442754 CA394479558 |
187 | S>N | No |
ClinGen gnomAD |
|
|
rs923516953 CA276902622 |
189 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs923516953 CA394479518 |
189 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs954876239 CA276902649 |
189 | G>S | No |
ClinGen gnomAD |
|
|
rs1292873204 CA394479459 |
191 | C>* | No |
ClinGen gnomAD |
|
|
rs1291928193 CA394479475 |
191 | C>R | No |
ClinGen TOPMed |
|
|
CA7860393 rs745839954 |
192 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA394479442 rs1390723147 |
192 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778534523 CA394479420 |
193 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs876660994 CA276902591 |
193 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs876660994 CA10577521 RCV000215867 |
193 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV000996178 CA7860392 rs778534523 |
193 | A>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
COSM1242505 CA7860391 rs200766991 |
195 | E>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7860386 rs561747094 |
196 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561747094 CA7860387 |
196 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs104895179 CA394479376 |
196 | G>R | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs104895179 VAR_072382 CA201518 |
196 | G>W | Familial mediterranean fever (fmf) arFMF; unknown pathological significance [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765450054 CA7860384 |
197 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276902568 rs906108610 |
197 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394479280 rs931450966 |
198 | Q>L | No |
ClinGen TOPMed |
|
|
CA276902557 rs931450966 |
198 | Q>R | No |
ClinGen TOPMed |
|
|
CA394479238 rs1454331438 |
199 | A>G | No |
ClinGen TOPMed |
|
|
CA394479164 rs1300745747 |
202 | R>G | No |
ClinGen gnomAD |
|
|
CA201521 rs224222 VAR_009053 |
202 | R>Q | benign variant; no effect on PYCARD/ASC inflammasome formation [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761031246 CA7860379 |
204 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA394479034 rs1386104492 |
207 | A>P | No |
ClinGen gnomAD |
|
|
rs1376697170 CA394478971 |
208 | S>R | No |
ClinGen gnomAD |
|
|
CA7860375 rs759326778 |
208 | S>T | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs1351519444 CA394478964 |
209 | S>P | No |
ClinGen gnomAD |
|
|
rs1450752777 CA394478921 |
210 | A>G | No |
ClinGen gnomAD |
|
|
CA7860374 rs774360372 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394478891 rs1254678624 |
211 | G>A | No |
ClinGen TOPMed |
|
|
rs1189709287 CA394478905 |
211 | G>R | No |
ClinGen gnomAD |
|
|
rs769410690 CA394478876 |
212 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860369 rs747816443 |
212 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7860370 rs769410690 |
212 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780525080 CA7860368 |
213 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394478842 rs1231199879 |
214 | Q>K | No |
ClinGen gnomAD |
|
|
rs1596358209 CA394478828 RCV001001030 |
214 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs943777537 CA276902483 |
215 | G>E | No |
ClinGen TOPMed |
|
|
CA7860367 rs754517265 |
215 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7860364 rs757748589 |
216 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7860363 rs754236724 |
216 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860365 rs757748589 |
216 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs756365064 CA394478733 |
217 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860362 rs764575283 |
217 | A>P | No |
ClinGen ExAC |
|
|
rs756365064 CA7860361 |
217 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860360 rs752973530 |
219 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394478696 rs752973530 |
219 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596358176 CA394478679 |
220 | A>V | No |
ClinGen Ensembl |
|
|
rs1431118968 CA394478669 |
221 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1431118968 CA394478670 |
221 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7860357 rs528185784 |
221 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs772938936 CA7860355 |
222 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA394478626 rs1439565398 |
223 | Q>* | No |
ClinGen TOPMed |
|
|
CA394478619 rs1449453116 |
223 | Q>R | No |
ClinGen gnomAD |
|
|
rs769604032 CA7860354 |
225 | E>K | No |
ClinGen ExAC |
|
|
rs752951110 CA276902401 |
226 | C>G | No |
ClinGen Ensembl |
|
|
CA394478513 rs1302994748 RCV000781525 |
227 | R>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA7860352 rs747728630 |
227 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7860351 rs776356820 |
228 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394478486 rs1596358139 |
228 | P>S | No |
ClinGen Ensembl |
|
|
CA7860350 rs746500055 |
230 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs779482218 CA7860349 |
231 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394478362 rs1204728272 |
232 | Y>* | No |
ClinGen TOPMed |
|
|
CA394478405 rs104895205 |
232 | Y>N | No |
ClinGen gnomAD |
|
|
rs1009462464 CA276902367 |
234 | P>L | No |
ClinGen Ensembl |
|
|
CA276902370 rs545639837 |
234 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs757793348 CA7860348 |
235 | S>L | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7860345 rs756561346 |
237 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1053594972 CA276902347 |
237 | K>N | No |
ClinGen Ensembl |
|
|
rs753063627 CA276902344 COSM1214875 |
239 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1310144955 CA394478177 |
240 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs781469530 CA7860343 |
241 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472692347 CA394477979 |
247 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7860341 rs762834049 |
247 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7860339 rs764952529 |
249 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860337 rs776333795 |
250 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs104895111 CA394477882 |
251 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs545985591 CA276902308 |
251 | E>D | No |
ClinGen Ensembl |
|
|
rs104895111 CA394477887 |
251 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV000506330 rs768336098 CA394477809 |
253 | A>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs768336098 CA7860336 COSM3387417 |
253 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs147421301 CA7860335 |
254 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563470459 CA7860334 |
255 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1347999744 CA394477720 |
256 | N>S | No |
ClinGen TOPMed |
|
|
CA7860331 rs201025181 |
257 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs201025181 CA394477685 |
257 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs149750452 CA7860332 |
257 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA276902275 rs910597218 |
258 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394477609 rs1229981464 |
260 | L>F | No |
ClinGen gnomAD |
|
|
CA394477560 rs1249535786 |
262 | T>S | No |
ClinGen Ensembl |
|
|
rs781458102 CA7860329 |
263 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1567237104 CA394477534 RCV000781532 |
263 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1326108510 CA394477478 |
264 | E>D | No |
ClinGen gnomAD |
|
|
rs1332262848 CA394477512 |
264 | E>K | No |
ClinGen gnomAD |
|
|
rs1390626179 CA394477419 |
266 | K>N | No |
ClinGen gnomAD |
|
|
rs780038752 CA7860326 |
267 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7860327 rs780038752 |
267 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7860324 rs104895123 |
268 | A>D | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA394477300 rs1248597476 COSM970390 |
269 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV001090251 CA7860322 rs753623518 |
270 | N>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA394477243 rs1451018233 |
270 | N>K | No |
ClinGen gnomAD |
|
|
CA394477268 rs1567237067 RCV000781528 |
270 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394477128 rs483353019 |
273 | S>* | No |
ClinGen gnomAD |
|
|
CA7860321 rs763831458 |
274 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1049503644 CA276902175 |
274 | A>V | No |
ClinGen TOPMed |
|
|
RCV000217401 rs876660995 CA10577520 |
276 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs759114268 CA7860317 |
277 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771910442 CA7860318 |
277 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs104895187 CA394477001 |
278 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104895187 CA7860316 |
278 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394477010 rs1346674969 |
278 | R>W | No |
ClinGen gnomAD |
|
|
CA394476995 rs1331069159 |
279 | A>T | No |
ClinGen gnomAD |
|
|
rs1596357961 CA394476981 |
279 | A>V | No |
ClinGen Ensembl |
|
|
CA394476954 rs1437746739 |
280 | R>K | No |
ClinGen gnomAD |
|
|
CA394476920 rs1300820886 |
281 | P>R | No |
ClinGen TOPMed |
|
|
CA394476929 rs1404384520 RCV001172094 |
281 | P>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA394476884 rs1399236601 |
282 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394476892 rs1399236601 |
282 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7860310 rs780239624 |
284 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7860309 rs758662689 |
287 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758662689 CA394476736 |
287 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567237002 CA394476645 |
291 | L>M | No |
ClinGen Ensembl |
|
|
CA394476642 rs1243069697 |
291 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394476605 rs1322269235 |
293 | E>D | No |
ClinGen Ensembl |
|
|
rs753723641 CA7860307 |
295 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs753723641 CA7860308 |
295 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA276902081 rs959131962 |
298 | P>L | No |
ClinGen Ensembl |
|
|
CA7860306 rs763891956 |
300 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA394476407 rs763891956 |
300 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA394476416 rs1355994721 |
300 | H>Y | No |
ClinGen TOPMed |
|
|
rs1366541645 CA394476376 |
301 | S>* | No |
ClinGen gnomAD |
|
|
rs1270033927 CA394476318 |
303 | T>I | No |
ClinGen gnomAD |
|
|
rs1177652071 CA394472238 |
304 | G>A | No |
ClinGen gnomAD |
|
|
COSM3690980 VAR_072385 rs75977701 CA280280 |
304 | G>R | Familial mediterranean fever (fmf) large_intestine arFMF; unknown pathological significance; no effect on PYCARD/ASC inflammasome formation [Ensembl, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs867345048 CA276899104 |
305 | R>K | No |
ClinGen Ensembl |
|
|
rs867290868 CA276899103 |
305 | R>S | No |
ClinGen Ensembl |
|
|
rs906390314 CA276899102 |
306 | P>S | No |
ClinGen Ensembl |
|
|
rs1396233356 CA394472163 |
307 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1396233356 CA394472160 |
307 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7860276 rs772843710 |
307 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA276899065 rs374104831 |
308 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7860275 rs368322244 |
308 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394472078 rs1250356664 |
309 | T>A | No |
ClinGen gnomAD |
|
|
rs104895155 CA280681 |
309 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359716513 CA394472050 |
310 | A>S | No |
ClinGen TOPMed |
|
|
rs1359716513 CA394472052 |
310 | A>T | No |
ClinGen TOPMed |
|
|
CA394472015 rs74346519 |
311 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394472020 rs1212368685 |
311 | A>S | No |
ClinGen gnomAD |
|
|
rs74346519 CA7860272 |
311 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1367248308 CA394471943 |
313 | P>L | No |
ClinGen gnomAD |
|
|
CA7860270 rs771254090 |
313 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394471925 rs1298122039 |
314 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA645294087 RCV000488915 rs1085307824 |
314 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394471936 rs1298122039 |
314 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7860269 rs769565764 |
315 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA7860267 rs200527263 |
317 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860266 rs200527263 |
317 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171187083 CA394471812 |
318 | Q>* | No |
ClinGen gnomAD |
|
|
rs1453171275 CA394471806 |
318 | Q>R | No |
ClinGen gnomAD |
|
|
CA7860264 RCV000217797 rs374412819 |
320 | G>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394471727 rs374412819 |
320 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374412819 CA7860265 |
320 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276899022 rs771969495 |
321 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs764835719 CA394471661 |
322 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs761105176 CA7860261 |
322 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA394471656 rs761105176 |
322 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764835719 CA7860262 |
322 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA276899015 rs140776637 |
324 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753216235 CA7860260 |
324 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA394471625 rs1555458950 |
324 | D>Y | No |
ClinGen Ensembl |
|
|
rs774821792 CA7860257 |
325 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs146862274 CA276899006 |
325 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7860258 rs146862274 |
325 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3741910 rs757216434 COSM3741909 CA276899005 |
329 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs104895112 CA280689 |
329 | R>H | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1959002659 RCV001090250 |
331 | S>F | No |
ClinVar dbSNP |
|
|
rs1291696082 CA394471405 |
331 | S>P | No |
ClinGen Ensembl |
|
|
CA394471377 rs1396309947 |
332 | C>R | No |
ClinGen gnomAD |
|
|
rs1310589178 CA394471328 |
333 | S>N | No |
ClinGen gnomAD |
|
|
CA276898982 rs536677123 |
334 | F>L | No |
ClinGen 1000Genomes |
|
|
rs1596354958 CA394471294 |
334 | F>S | No |
ClinGen Ensembl |
|
|
CA394471256 rs1437655363 |
335 | P>H | No |
ClinGen TOPMed |
|
|
rs748036598 CA394471231 |
336 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748036598 CA7860253 |
336 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs483353018 CA394471141 |
338 | V>F | No |
ClinGen gnomAD |
|
|
CA394471027 rs1596354931 |
341 | H>P | No |
ClinGen Ensembl |
|
|
rs774397209 CA276898963 |
342 | P>A | No |
ClinGen TOPMed |
|
|
rs1371766377 CA394470999 |
342 | P>L | No |
ClinGen gnomAD |
|
|
rs774397209 CA276898954 |
342 | P>S | No |
ClinGen TOPMed |
|
|
rs1567234760 CA394470945 |
344 | A>T | No |
ClinGen Ensembl |
|
|
rs75446425 CA7860252 |
345 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7860250 rs779923486 |
346 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs779923486 CA7860251 |
346 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM2153454 COSM2153455 rs750095575 CA7860248 |
348 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA276898922 rs983750259 |
349 | S>L | No |
ClinGen Ensembl |
|
|
rs1280958629 CA394470770 |
350 | P>R | No |
ClinGen TOPMed |
|
|
rs756751963 CA7860247 |
350 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104895164 CA7860244 |
352 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767983659 CA7860245 |
352 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs370092885 CA276898889 |
353 | P>L | No |
ClinGen ESP |
|
|
CA394470684 rs1198069044 |
353 | P>S | No |
ClinGen TOPMed |
|
|
CA7860241 rs377754606 |
356 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755066021 CA7860239 |
357 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776889228 CA7860238 |
358 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1170491108 CA394470527 |
359 | H>Q | No |
ClinGen TOPMed |
|
|
rs552397581 CA276898862 |
359 | H>R | No |
ClinGen 1000Genomes |
|
|
CA394470467 rs1462255780 |
362 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747001133 CA7860237 |
363 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860236 rs771915984 |
364 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA276898854 rs199592764 |
366 | S>N | No |
ClinGen Ensembl |
|
|
rs1567234671 COSM1140974 CA394470346 COSM557841 |
366 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA394470291 rs748777584 |
368 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_009055 rs11466023 CA280114 |
369 | P>S | Familial mediterranean fever (fmf) arFMF; unknown pathological significance; associated with Q-148 and Q-408 in cis [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394470230 rs1345989025 |
371 | P>R | No |
ClinGen TOPMed |
|
|
rs374381476 CA7860231 |
372 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7860229 rs758772308 |
374 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA394470131 rs1229926701 |
375 | C>R | No |
ClinGen gnomAD |
|
|
CA394470104 rs1459106702 |
376 | K>E | No |
ClinGen TOPMed |
|
|
rs1009404209 CA276898838 |
376 | K>R | No |
ClinGen Ensembl |
|
|
COSM435202 rs144998416 COSM1134034 CA7860228 |
377 | R>H | oesophagus breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7860227 rs765524141 |
378 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394470056 rs1236208921 |
378 | H>Y | No |
ClinGen gnomAD |
|
|
rs756295637 CA276898835 |
381 | Q>* | No |
ClinGen Ensembl |
|
|
rs1248181134 CA394469975 |
382 | V>L | No |
ClinGen TOPMed |
|
|
CA394469919 rs1442116768 |
385 | L>F | No |
ClinGen gnomAD |
|
|
CA394469794 rs1466714832 |
391 | D>G | No |
ClinGen TOPMed |
|
|
CA7860224 rs764274816 RCV000520467 |
391 | D>N | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7860225 rs764274816 |
391 | D>Y | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1390626254 CA394469780 |
392 | E>K | No |
ClinGen TOPMed |
|
|
CA394469758 rs1325944556 |
393 | P>A | No |
ClinGen TOPMed |
|
|
CA394469742 rs1332001084 |
393 | P>L | No |
ClinGen TOPMed |
|
|
CA394469753 rs1325944556 |
393 | P>S | No |
ClinGen TOPMed |
|
|
rs771974750 CA7860222 |
394 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7860219 rs770524941 |
395 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA7860221 rs745647893 |
395 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860220 rs770524941 |
395 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394469686 rs1194114091 |
396 | L>I | No |
ClinGen gnomAD |
|
|
CA276898741 rs889150739 |
397 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394469660 rs889150739 |
397 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394469634 rs1210334977 |
398 | C>Y | No |
ClinGen gnomAD |
|
|
rs777194815 CA7860217 |
400 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA394469533 rs1283065696 |
401 | S>N | No |
ClinGen gnomAD |
|
|
CA394469509 rs1251878060 |
402 | Q>* | No |
ClinGen TOPMed |
|
|
rs1411603561 CA394469471 |
403 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1411603561 CA394469469 |
403 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394469405 rs1346435261 |
405 | Q>E | No |
ClinGen gnomAD |
|
|
rs945231308 CA276898724 |
406 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs371090652 CA276898729 |
406 | G>S | No |
ClinGen ESP TOPMed |
|
|
rs780605414 CA7860214 |
407 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1235754839 CA394469364 |
407 | H>R | No |
ClinGen gnomAD |
|
|
VAR_009056 rs11466024 CA280116 |
408 | R>Q | Familial mediterranean fever (fmf) arFMF; associated with Q-148 and S-369 in cis [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs933544272 CA276898685 |
409 | V>M | No |
ClinGen Ensembl |
|
|
rs765717188 CA7860212 |
410 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1318585 COSM1318586 rs1399033974 CA394469319 |
410 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7860210 rs754128103 |
411 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394469284 rs1434076108 |
412 | I>V | No |
ClinGen gnomAD |
|
|
rs938767620 CA276898675 |
415 | V>F | No |
ClinGen TOPMed |
|
|
rs752763558 CA7860208 |
416 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7860209 rs760804547 |
416 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394469010 rs1443780865 |
420 | K>E | No |
ClinGen gnomAD |
|
|
rs1596354626 CA394468995 |
420 | K>R | No |
ClinGen Ensembl |
|
|
rs104895149 CA394468674 |
423 | I>L | No |
ClinGen gnomAD |
|
|
CA7860190 rs751508536 |
423 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA7860189 rs192393953 |
427 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394468429 rs1489656593 |
428 | E>D | No |
ClinGen TOPMed |
|
|
CA276898485 rs141564727 |
429 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA7860188 rs762728076 |
432 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA394468312 rs762728076 |
432 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA394468275 rs1262737439 |
432 | K>N | No |
ClinGen TOPMed |
|
|
CA394468268 rs1596354307 |
433 | L>V | No |
ClinGen Ensembl |
|
|
rs866461757 CA276898484 |
434 | R>K | No |
ClinGen Ensembl |
|
|
CA7860187 rs773030937 |
435 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs867468372 CA276898483 |
436 | S>L | No |
ClinGen Ensembl |
|
|
rs1202888942 CA394468119 COSM223822 |
437 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA394468110 rs1202888942 |
437 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA394468032 rs1274043842 |
439 | E>K | No |
ClinGen gnomAD |
|
|
rs11466026 CA7860185 |
440 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs11466026 VAR_024376 CA280245 |
440 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7860184 rs768066753 |
441 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746577275 CA7860183 |
441 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372553571 CA394467848 |
442 | S>F | No |
ClinGen gnomAD |
|
|
rs771606146 CA394467841 |
443 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs771606146 CA7860181 |
443 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1596354258 CA394467787 |
444 | G>E | No |
ClinGen Ensembl |
|
|
CA7860179 rs377706011 |
447 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756322372 CA7860178 RCV000398473 |
447 | K>N | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1346568332 CA394467599 |
448 | A>T | No |
ClinGen gnomAD |
|
|
rs1056304400 CA276898461 |
450 | S>G | No |
ClinGen TOPMed |
|
|
CA276898459 rs147349325 |
451 | F>L | No |
ClinGen 1000Genomes |
|
|
CA394465309 rs1251103804 |
454 | Q>R | No |
ClinGen gnomAD |
|
|
CA7860142 rs770397296 |
459 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA7860141 rs145637617 |
461 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145637617 CA7860140 |
461 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394465031 rs1213998022 |
461 | R>W | No |
ClinGen gnomAD |
|
|
rs1240519036 COSM1377699 COSM1377698 CA394464965 |
463 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7860138 rs747262548 |
464 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394464750 rs778686119 |
469 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104895173 CA7860135 |
469 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1161566990 CA394464678 |
471 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs224208 CA394464607 |
474 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1276287320 CA394464551 |
476 | Q>E | No |
ClinGen TOPMed |
|
|
rs752413551 CA7860131 |
477 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1467779773 CA394464500 |
477 | E>D | No |
ClinGen gnomAD |
|
|
CA7860130 rs374937035 |
478 | H>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7860129 rs104895083 COSM282758 VAR_009057 |
479 | F>L | Familial mediterranean fever (fmf) arFMF large_intestine [Ensembl, UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs104895083 CA280103 COSM282758 |
479 | F>L | Familial mediterranean fever (fmf) large_intestine [Ensembl, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7860128 rs765636421 |
480 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000488972 rs1085307581 |
481 | V>missing | No |
ClinVar dbSNP |
|
|
CA394464362 rs1487427766 |
481 | V>L | No |
ClinGen Ensembl |
|
|
CA7860124 rs760827469 |
484 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867075737 CA276897404 |
485 | E>K | No |
ClinGen Ensembl |
|
|
CA394464227 rs147767925 |
486 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1375297218 CA394464233 |
486 | D>V | No |
ClinGen gnomAD |
|
|
rs779072857 CA7860121 |
490 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394464018 rs1385835956 |
492 | G>V | No |
ClinGen gnomAD |
|
|
rs770738099 CA394464008 |
493 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860120 rs770738099 |
493 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749257763 CA7860119 |
494 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396771541 CA394463938 |
495 | R>G | No |
ClinGen gnomAD |
|
|
rs150997933 CA7860118 |
495 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755963263 CA7860117 |
497 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7860116 rs752603411 |
497 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA394463728 rs140462252 |
502 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1596352680 CA394463713 |
503 | S>T | No |
ClinGen Ensembl |
|
|
CA276897352 COSM1708667 rs886082025 COSM1708668 |
504 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA276897350 COSM109725 rs150730718 |
505 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs199937453 CA7860111 |
508 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394463560 rs1398177500 |
509 | L>F | No |
ClinGen gnomAD |
|
|
COSM3377887 CA7860108 COSM3377888 rs759836718 |
511 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7860107 rs144270019 |
511 | A>V | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1486333261 CA394463392 |
517 | E>Q | No |
ClinGen gnomAD |
|
|
rs777845714 CA7860105 |
519 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA394463316 rs1212299747 |
519 | K>N | No |
ClinGen gnomAD |
|
|
CA7860104 rs769888172 |
520 | E>V | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs377541032 CA7860103 |
521 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394463212 rs1437064243 |
522 | Q>R | No |
ClinGen TOPMed |
|
|
rs562465748 CA276897315 |
524 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs772349671 CA7860102 |
526 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394463058 rs754546504 |
527 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7860101 rs754546504 |
527 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1186367001 CA394462678 |
531 | I>T | No |
ClinGen TOPMed |
|
|
rs763288390 CA7860073 |
532 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs763288390 CA394462660 |
532 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA394462571 rs1429940932 |
536 | H>P | No |
ClinGen TOPMed |
|
|
CA276897107 rs752586757 |
537 | R>G | No |
ClinGen Ensembl |
|
|
CA394459189 COSM1318587 rs1296818739 COSM1318588 |
538 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7860045 rs770613291 |
539 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453969739 CA394459116 |
540 | T>K | No |
ClinGen TOPMed |
|
|
rs1175758851 CA394459093 |
541 | V>L | No |
ClinGen gnomAD |
|
|
CA394459046 rs1421854113 |
542 | P>L | No |
ClinGen gnomAD |
|
|
rs1431692070 CA394459054 |
542 | P>S | No |
ClinGen gnomAD |
|
|
rs1431692070 CA394459062 |
542 | P>T | No |
ClinGen gnomAD |
|
|
CA7860044 rs748805657 |
547 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA394458865 rs748805657 |
547 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA276896157 rs1015503384 |
547 | W>R | No |
ClinGen TOPMed |
|
|
rs550970304 CA394458854 |
548 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7860043 rs550970304 |
548 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769163866 CA7860042 |
553 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394458677 rs1213004639 |
553 | I>T | No |
ClinGen gnomAD |
|
|
rs1255239623 CA394458583 |
555 | Q>E | No |
ClinGen gnomAD |
|
|
CA394458466 rs1567232255 |
556 | K>N | No |
ClinGen Ensembl |
|
|
CA394458366 rs747471997 |
558 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758820729 CA7860039 |
560 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952604863 CA276896126 |
561 | H>Y | No |
ClinGen TOPMed |
|
|
CA7860037 rs779244985 |
562 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1033941048 CA276896123 |
562 | Q>R | No |
ClinGen Ensembl |
|
|
rs1377236902 CA394458232 |
563 | K>Q | No |
ClinGen TOPMed |
|
|
CA7860036 rs757576450 |
564 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1447592803 CA394458156 |
564 | S>L | No |
ClinGen TOPMed |
|
|
CA394458137 rs753915461 |
565 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7860034 rs753915461 |
565 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394458113 rs568376586 |
566 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7860033 rs568376586 |
566 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394457907 rs1477608905 |
571 | T>A | No |
ClinGen gnomAD |
|
|
CA7860030 rs767512742 |
571 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759300401 CA7860029 |
573 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
VAR_070796 CA10654935 rs1057516210 |
577 | T>N | Familial mediterranean fever (fmf) probable disease-associated variant found in an autosomal dominant autoinflammatory disease with some similarities to familial Mediterranean fever [Ensembl, UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
CA7860009 rs762605919 |
579 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574055513 CA7860008 |
579 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394490434 rs1328097934 |
582 | M>I | No |
ClinGen gnomAD |
|
|
CA394490437 rs1374976161 |
582 | M>R | No |
ClinGen gnomAD |
|
|
CA394490431 rs1387563585 |
583 | E>* | No |
ClinGen gnomAD |
|
|
rs1355333702 CA394490409 |
584 | M>T | No |
ClinGen TOPMed |
|
|
CA276955801 VAR_028334 rs11466043 |
585 | F>L | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs976384120 CA276955797 |
586 | N>S | No |
ClinGen Ensembl |
|
|
CA7859934 COSM1563127 rs775374556 |
588 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394488947 rs1478414642 |
590 | L>V | No |
ClinGen TOPMed |
|
|
CA7859930 rs141706767 |
591 | I>M | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs11466045 VAR_016827 CA280263 |
591 | I>T | Familial mediterranean fever (fmf) arFMF; unknown pathological significance [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1426075332 CA394488889 |
592 | G>D | No |
ClinGen gnomAD |
|
|
rs375665850 CA276955483 |
593 | A>T | No |
ClinGen gnomAD |
|
|
rs144122901 CA7859927 |
594 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7859925 rs369069000 |
595 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280442 rs104895191 |
595 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312420603 CA394488798 |
596 | H>Q | No |
ClinGen gnomAD |
|
|
CA394488775 rs1217109787 |
597 | A>G | No |
ClinGen gnomAD |
|
|
rs754163287 CA7859924 |
597 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1028273722 CA276955464 |
598 | V>I | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA280449 rs104895210 |
599 | N>D | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs920061805 CA276955289 |
600 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs979436574 CA276955284 |
601 | I>L | No |
ClinGen Ensembl |
|
|
rs779572391 CA394488562 |
601 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138462251 CA7859910 |
603 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1458834927 CA394488516 |
604 | A>V | No |
ClinGen gnomAD |
|
|
rs1238347216 CA394488494 |
605 | E>G | No |
ClinGen gnomAD |
|
|
rs764652059 CA394488457 |
607 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7859909 rs764652059 |
607 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200860237 CA394488417 |
609 | P>A | No |
ClinGen TOPMed |
|
|
CA7859907 rs767728291 |
610 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs759706563 CA7859906 |
611 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs751618872 CA7859905 |
612 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA394488298 rs1332372034 |
614 | S>Y | No |
ClinGen gnomAD |
|
|
rs1248511262 CA394488237 |
617 | L>R | No |
ClinGen TOPMed |
|
|
CA394488132 rs1469429343 |
620 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394488107 rs1458378740 |
622 | L>V | No |
ClinGen gnomAD |
|
|
rs1161459811 CA394488055 |
624 | N>K | No |
ClinGen gnomAD |
|
|
rs1367776459 CA394488065 |
624 | N>S | No |
ClinGen gnomAD |
|
|
rs773281678 CA7859902 |
625 | K>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000413005 rs773281678 CA16043009 |
625 | K>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA276955257 rs377591832 COSM1662740 |
626 | W>R | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA276955254 rs954997073 |
628 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1177689278 CA394487952 |
628 | R>S | No |
ClinGen gnomAD |
|
|
CA7859901 rs376579860 |
630 | P>L | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM970376 rs104895128 CA394487888 |
632 | G>C | Familial mediterranean fever (fmf) endometrium [Ensembl, Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs104895128 CA280459 VAR_028335 |
632 | G>S | Familial mediterranean fever (fmf) arFMF [Ensembl, UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA394487878 rs967990798 |
632 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369107119 COSM1708665 CA394487823 |
634 | Q>H | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA394487769 rs1356359505 |
636 | F>C | No |
ClinGen gnomAD |
|
|
CA394487728 rs1181953901 |
638 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA394487700 rs1439074921 |
639 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs104895147 CA7859896 |
641 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7859895 rs778229522 |
642 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs573886328 CA276955227 |
642 | V>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA276955223 rs781411214 |
648 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7859893 rs142748016 |
650 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751814691 CA7859892 |
652 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs766778566 CA7859891 |
652 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280118 rs104895085 VAR_016828 |
653 | R>H | Familial mediterranean fever (fmf) arFMF [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA394487364 rs1432156641 |
655 | W>L | No |
ClinGen gnomAD |
|
|
rs1022125045 CA276955203 |
656 | E>K | No |
ClinGen TOPMed |
|
|
CA394487258 rs1596350129 |
657 | V>G | No |
ClinGen Ensembl |
|
|
CA7859887 rs776421624 |
660 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761688984 COSM1377693 CA7859888 |
660 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1348832741 CA394487158 |
662 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs768349027 CA394487126 |
662 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596350113 CA394487138 |
662 | K>R | No |
ClinGen Ensembl |
|
|
rs1234232463 CA394487116 |
664 | A>S | No |
ClinGen gnomAD |
|
|
CA276955184 rs774015085 |
668 | G>R | No |
ClinGen Ensembl |
|
|
CA394486812 rs1281431421 |
672 | T>I | No |
ClinGen gnomAD |
|
|
CA394486758 rs1297006669 |
674 | I>T | No |
ClinGen TOPMed |
|
|
rs1375707235 CA394486743 |
675 | S>R | No |
ClinGen Ensembl |
|
|
CA394486710 rs1340996058 |
676 | R>G | No |
ClinGen gnomAD |
|
|
CA394486661 rs1349935666 |
677 | K>R | No |
ClinGen gnomAD |
|
|
rs771759703 CA7859883 |
678 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs771759703 CA394486640 |
678 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750959153 CA276955174 |
679 | N>S | No |
ClinGen Ensembl |
|
|
rs28940580 CA280112 |
680 | M>I | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs28940580 RCV000220209 CA10577519 VAR_028343 |
680 | M>I | Familial mediterranean fever (fmf) arFMF and adFMF; reduced CASP1 interaction; decreased interaction with ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation; when associated with V-694 (PubMed:26347139); no effect on PYCARD/ASC inflammasome formation; no effect on interaction with 14-3-3 proteins [Ensembl, UniProt] | No |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs28940580 CA280267 |
680 | M>I | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs104895089 CA276955172 |
680 | M>V | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen Ensembl |
|
CA7859882 COSM3420966 rs534682649 |
683 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA394486383 rs1357275323 |
686 | N>T | No |
ClinGen TOPMed |
|
|
rs104895098 CA280498 |
688 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394486312 rs1487302096 |
689 | W>L | No |
ClinGen TOPMed |
|
|
CA7859880 rs566082564 |
689 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001172093 rs1487302096 |
689 | W>S | No |
ClinVar dbSNP |
|
|
rs758718706 CA7859879 |
690 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1281153557 CA394486276 |
690 | V>M | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen TOPMed gnomAD |
|
CA7859878 rs750493311 |
691 | V>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_009060 rs104895093 |
692 | I>missing | arFMF [UniProt] | No |
UniProt dbSNP |
|
CA276955135 rs749052818 |
693 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394486148 rs749052818 |
693 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs28940577 CA276955137 |
693 | M>V | No |
ClinGen Ensembl |
|
|
CA280093 VAR_009061 rs28940578 |
694 | M>I | Familial mediterranean fever (fmf) arFMF and adFMF; associated with Q-148 in some patients; no effect on PYCARD/ASC inflammasome formation; no effect on interaction with 14-3-3 proteins [Ensembl, UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1555458284 CA658656509 RCV000519280 |
694 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA280091 rs61752717 VAR_009062 |
694 | M>V | Familial mediterranean fever (fmf) arFMF and adFMF; very common mutation particularly in North African Jews; can be associated with amyloidosis development; reduced interaction with CASP1 and with ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation (PubMed:16785446) (PubMed:26347139); effect on autophagic NLRP3 degradation is increased; when associated with I-680; no effect on interaction with CASP1, CASP5, NLRP1, NLRP2 or NLRP3 (PubMed:17431422) [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs104895208 CA394486080 |
695 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104895094 CA280105 VAR_009064 |
695 | K>R | Familial mediterranean fever (fmf) arFMF; reduced penetrance among Ashkenazi Jews [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs932100878 CA276955115 |
700 | Q>* | No |
ClinGen Ensembl |
|
|
rs1334526084 CA394485982 |
700 | Q>H | No |
ClinGen gnomAD |
|
|
rs547379518 CA276955114 |
701 | A>P | No |
ClinGen gnomAD |
|
|
rs547379518 CA394485978 |
701 | A>T | No |
ClinGen gnomAD |
|
|
rs760439284 CA7859876 |
701 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104895166 CA7859875 |
702 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104895166 CA7859874 |
702 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748891586 CA394485909 |
704 | V>A | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA276955098 rs200283928 |
705 | P>L | No |
ClinGen Ensembl |
|
|
CA7859872 rs202174893 |
706 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394485886 rs202174893 |
706 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7859871 rs747331581 |
707 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs200375017 CA276955088 |
708 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200375017 CA394485864 |
708 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7859870 rs200375017 |
708 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394485805 rs1355954520 |
711 | I>M | No |
ClinGen TOPMed |
|
|
CA394485782 rs1461537843 |
713 | E>Q | No |
ClinGen gnomAD |
|
|
CA7859869 RCV000219567 rs758628487 |
714 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA394485737 rs1212775144 |
715 | P>S | No |
ClinGen gnomAD |
|
|
rs746092199 CA7859868 RCV000218313 |
716 | K>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs104895192 CA7859867 |
717 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763886984 CA7859865 |
718 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1442705774 CA394485653 |
719 | G>D | No |
ClinGen TOPMed |
|
|
CA394485632 rs1398984742 |
720 | I>T | No |
ClinGen gnomAD |
|
|
rs11466047 CA394485612 |
721 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7859864 rs752420742 |
721 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs104895201 CA7859861 |
722 | V>L | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7859862 rs104895201 |
722 | V>L | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772802970 CA7859859 |
724 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
VAR_009065 CA280095 rs28940579 |
726 | V>A | arFMF; common mutation; in Iraqi and Ashkenazi Jews, Druze, Armenians; reduced interaction with CASP1 and ULK1 and diminished NLRP3 degradation after induction of autophagy by starvation; when associated with I-680 and V-694; no effect on CASP1 activation; no effect on interaction with 14-3-3 proteins Familial mediterranean fever (fmf) [UniProt, Ensembl] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7859858 rs28940579 |
726 | V>D | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7859857 rs775941254 |
728 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs140434276 CA7859856 |
729 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs988088780 CA276955037 |
731 | F>L | No |
ClinGen TOPMed |
|
|
rs746311916 CA7859855 |
731 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA394485362 rs1245305931 |
732 | Y>D | No |
ClinGen gnomAD |
|
|
rs146720938 CA276955035 |
733 | N>S | No |
ClinGen ESP |
|
|
CA394485322 rs1329586414 |
734 | V>G | No |
ClinGen TOPMed |
|
|
rs1567231331 CA394485240 |
736 | A>G | No |
ClinGen Ensembl |
|
|
CA7859853 rs139092123 |
737 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139092123 CA276955026 |
737 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749285131 CA7859852 |
738 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA394485179 rs1277277711 |
739 | H>R | No |
ClinGen gnomAD |
|
|
CA7859851 rs777833894 |
741 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7859850 rs199927442 |
742 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs104895216 CA394485105 |
743 | F>S | No |
ClinGen gnomAD |
|
|
rs61732874 VAR_009066 CA280107 |
744 | A>S | Familial mediterranean fever (fmf) arFMF; uncertain pathological significance [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA276955010 rs61732874 |
744 | A>T | Familial mediterranean fever (fmf) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA394485051 rs1567231301 |
745 | S>C | No |
ClinGen Ensembl |
|
|
CA276955004 rs971489905 |
745 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1407457811 CA394485040 |
746 | C>R | No |
ClinGen gnomAD |
|
|
CA394485012 rs1175561757 |
747 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394485007 rs1175561757 |
747 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs104895171 CA7859848 |
749 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7859849 rs754732415 |
749 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749838979 CA7859846 |
750 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA394484916 rs1567231282 |
752 | L>R | No |
ClinGen Ensembl |
|
|
CA276954982 rs898735623 |
758 | P>R | No |
ClinGen TOPMed |
|
|
CA394484717 rs1303343711 |
759 | G>E | No |
ClinGen TOPMed |
|
|
rs759769839 CA7859843 |
760 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774807554 CA7859842 |
761 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280110 VAR_009067 rs104895097 |
761 | R>H | Familial mediterranean fever (fmf) arFMF [Ensembl, UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1567231260 CA394484598 |
764 | G>R | No |
ClinGen Ensembl |
|
|
rs148707371 CA7859839 |
766 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394484540 rs1454572564 |
766 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1344970217 CA394484535 |
767 | T>A | No |
ClinGen gnomAD |
|
|
CA7859838 rs748264438 |
768 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394484514 rs1157270759 |
768 | A>T | No |
ClinGen gnomAD |
|
|
CA394484487 rs387907565 |
769 | P>S | No |
ClinGen TOPMed |
|
|
rs1567231231 CA394484381 |
773 | C>G | No |
ClinGen Ensembl |
|
|
rs1430125672 CA394484377 |
773 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394484315 rs1567231225 |
774 | P>L | No |
ClinGen Ensembl |
|
|
rs952333535 CA276954947 |
775 | V>L | No |
ClinGen Ensembl |
|
|
CA394484285 rs1479429941 |
776 | G>A | No |
ClinGen gnomAD |
|
|
CA394484282 rs1479429941 |
776 | G>D | No |
ClinGen gnomAD |
|
|
CA276954941 rs1051274200 |
776 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1479429941 CA394484286 |
776 | G>V | No |
ClinGen gnomAD |
|
|
rs573854615 CA394484279 |
777 | G>R | No |
ClinGen gnomAD |
|
|
rs573854615 CA276954933 |
777 | G>S | No |
ClinGen gnomAD |
|
|
rs1366885918 CA394484256 |
778 | Q>E | No |
ClinGen TOPMed |
|
|
CA394484223 rs1459541096 |
779 | G>V | No |
ClinGen TOPMed |
|
|
CA394484211 rs1399313952 |
781 | D>Y | No |
ClinGen TOPMed |
3 associated diseases with O15553
[MIM: 249100]: Familial Mediterranean fever, autosomal recessive (ARFMF)
A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. {ECO:0000269|PubMed:10024914, ECO:0000269|PubMed:10090880, ECO:0000269|PubMed:10234504, ECO:0000269|PubMed:10364520, ECO:0000269|PubMed:10612841, ECO:0000269|PubMed:10842288, ECO:0000269|PubMed:10854105, ECO:0000269|PubMed:11470495, ECO:0000269|PubMed:15024744, ECO:0000269|PubMed:16378925, ECO:0000269|PubMed:16730661, ECO:0000269|PubMed:23031807, ECO:0000269|PubMed:24929125, ECO:0000269|PubMed:26347139, ECO:0000269|PubMed:27030597, ECO:0000269|PubMed:9288094, ECO:0000269|PubMed:9288758, ECO:0000269|PubMed:9668175}. Note=The disease is caused by variants affecting the gene represented in this entry. The disease-associated mutations in the B30.2/SPRY domain perturb ULK1 recruitment and autophagic degradation of inflammasome components, including NLRP3, and hence may contribute to the inflammatory phenotype associated with ARFMF. {ECO:0000269|PubMed:26347139}.
[MIM: 134610]: Familial Mediterranean fever, autosomal dominant (ADFMF)
A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness. {ECO:0000269|PubMed:10787449, ECO:0000269|PubMed:14679589}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 608068]: Pyrin-associated autoinflammatory disease (PAAND)
An autosomal dominant autoinflammatory disorder characterized by childhood onset of recurrent episodes of fever, neutrophilic dermatosis, myalgia and arthralgia. The neutrophilic dermatosis comprises a spectrum of clinical manifestations, including severe acne, sterile skin abscesses, pyoderma gangrenosum, and neutrophilic small-vessel vasculitis. Pathological examination of affected skin shows a dense, predominantly neutrophilic, vascular, perivascular, and interstitial infiltrate. PAAND has incomplete penetrance and variable expressivity. {ECO:0000269|PubMed:27030597, ECO:0000269|PubMed:28835462}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. {ECO:0000269|PubMed:10024914, ECO:0000269|PubMed:10090880, ECO:0000269|PubMed:10234504, ECO:0000269|PubMed:10364520, ECO:0000269|PubMed:10612841, ECO:0000269|PubMed:10842288, ECO:0000269|PubMed:10854105, ECO:0000269|PubMed:11470495, ECO:0000269|PubMed:15024744, ECO:0000269|PubMed:16378925, ECO:0000269|PubMed:16730661, ECO:0000269|PubMed:23031807, ECO:0000269|PubMed:24929125, ECO:0000269|PubMed:26347139, ECO:0000269|PubMed:27030597, ECO:0000269|PubMed:9288094, ECO:0000269|PubMed:9288758, ECO:0000269|PubMed:9668175}. Note=The disease is caused by variants affecting the gene represented in this entry. The disease-associated mutations in the B30.2/SPRY domain perturb ULK1 recruitment and autophagic degradation of inflammasome components, including NLRP3, and hence may contribute to the inflammatory phenotype associated with ARFMF. {ECO:0000269|PubMed:26347139}.
- A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness. {ECO:0000269|PubMed:10787449, ECO:0000269|PubMed:14679589}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant autoinflammatory disorder characterized by childhood onset of recurrent episodes of fever, neutrophilic dermatosis, myalgia and arthralgia. The neutrophilic dermatosis comprises a spectrum of clinical manifestations, including severe acne, sterile skin abscesses, pyoderma gangrenosum, and neutrophilic small-vessel vasculitis. Pathological examination of affected skin shows a dense, predominantly neutrophilic, vascular, perivascular, and interstitial infiltrate. PAAND has incomplete penetrance and variable expressivity. {ECO:0000269|PubMed:27030597, ECO:0000269|PubMed:28835462}. Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for O15553
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | B-box-type zinc finger | 370 - 412 | IPR000315 |
| domain | B30.2/SPRY domain | 580 - 775 | IPR001870 |
| domain | SPRY domain | 650 - 776 | IPR003877 |
| domain | Butyrophylin-like, SPRY domain | 596 - 613 | IPR003879-1 |
| domain | Butyrophylin-like, SPRY domain | 613 - 630 | IPR003879-2 |
| domain | Butyrophylin-like, SPRY domain | 635 - 659 | IPR003879-3 |
| domain | Butyrophylin-like, SPRY domain | 665 - 678 | IPR003879-4 |
| domain | Butyrophylin-like, SPRY domain | 709 - 733 | IPR003879-5 |
| domain | Butyrophylin-like, SPRY domain | 740 - 758 | IPR003879-6 |
| domain | DAPIN domain | 1 - 92 | IPR004020 |
| domain | SPRY-associated | 597 - 649 | IPR006574 |
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| autophagosome | A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| inflammasome complex | A cytosolic protein complex that is capable of activating caspase-1. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| microtubule associated complex | Any multimeric complex connected to a microtubule. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| identical protein binding | Binding to an identical protein or proteins. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| zinc ion binding | Binding to a zinc ion (Zn). |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of cytokine production involved in inflammatory response | Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. |
| negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
| negative regulation of interleukin-1 beta production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-1 beta production. |
| negative regulation of interleukin-12 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-12 production. |
| negative regulation of macrophage inflammatory protein 1 alpha production | Any process that stops, prevents, or reduces the frequency, rate, or extent of production of macrophage inflammatory protein 1 alpha. |
| negative regulation of NLRP3 inflammasome complex assembly | Any process that stops, prevents or reduces the frequency, rate or extent of NLRP3 inflammasome complex assembly. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of cysteine-type endopeptidase activity | Any process that activates or increases the frequency, rate or extent of cysteine-type endopeptidase activity. |
| positive regulation of interleukin-1 beta production | Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| pyroptosome complex assembly | The aggregation, arrangement and bonding together of a set of components to form a pyroptosome complex. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of interleukin-1 beta production | Any process that modulates the frequency, rate, or extent of interleukin-1 beta production. |
| response to interferon-gamma | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon-gamma is also known as type II interferon. |
49 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9G4 | TRIM10 | Tripartite motif-containing protein 10 | Bos taurus (Bovine) | PR |
| Q2T9Z0 | TRIM17 | E3 ubiquitin-protein ligase TRIM17 | Bos taurus (Bovine) | PR |
| E1BJS7 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Bos taurus (Bovine) | PR |
| Q7YRV4 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Bos taurus (Bovine) | PR |
| Q1PRL4 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Gallus gallus (Chicken) | PR |
| Q7YR32 | TRIM10 | Tripartite motif-containing protein 10 | Pan troglodytes (Chimpanzee) | PR |
| Q9BTV5 | FSD1 | Fibronectin type III and SPRY domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9UJV3 | MID2 | Probable E3 ubiquitin-protein ligase MID2 | Homo sapiens (Human) | PR |
| P29590 | PML | Protein PML | Homo sapiens (Human) | PR |
| Q9NQ86 | TRIM36 | E3 ubiquitin-protein ligase TRIM36 | Homo sapiens (Human) | PR |
| Q86UV6 | TRIM74 | Tripartite motif-containing protein 74 | Homo sapiens (Human) | PR |
| Q2Q1W2 | TRIM71 | E3 ubiquitin-protein ligase TRIM71 | Homo sapiens (Human) | PR |
| Q9BXM9 | FSD1L | FSD1-like protein | Homo sapiens (Human) | PR |
| Q9H2S5 | RNF39 | RING finger protein 39 | Homo sapiens (Human) | PR |
| Q86UV7 | TRIM73 | Tripartite motif-containing protein 73 | Homo sapiens (Human) | PR |
| Q86XT4 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Homo sapiens (Human) | PR |
| Q6ZMU5 | TRIM72 | Tripartite motif-containing protein 72 | Homo sapiens (Human) | PR |
| Q9UPQ4 | TRIM35 | E3 ubiquitin-protein ligase TRIM35 | Homo sapiens (Human) | PR |
| Q9BZY9 | TRIM31 | E3 ubiquitin-protein ligase TRIM31 | Homo sapiens (Human) | PR |
| Q9C029 | TRIM7 | E3 ubiquitin-protein ligase TRIM7 | Homo sapiens (Human) | PR |
| A6NCK2 | TRIM43B | Tripartite motif-containing protein 43B | Homo sapiens (Human) | PR |
| Q8N9V2 | TRIML1 | Probable E3 ubiquitin-protein ligase TRIML1 | Homo sapiens (Human) | PR |
| P19474 | TRIM21 | E3 ubiquitin-protein ligase TRIM21 | Homo sapiens (Human) | PR |
| Q14142 | TRIM14 | Tripartite motif-containing protein 14 | Homo sapiens (Human) | PR |
| A6NK02 | TRIM75 | Tripartite motif-containing protein 75 | Homo sapiens (Human) | PR |
| Q5EBN2 | TRIM61 | Putative tripartite motif-containing protein 61 | Homo sapiens (Human) | PR |
| Q9WUH5 | Trim10 | Tripartite motif-containing protein 10 | Mus musculus (Mouse) | PR |
| Q8BZT2 | Sh3rf2 | E3 ubiquitin-protein ligase SH3RF2 | Mus musculus (Mouse) | PR |
| Q7TPM3 | Trim17 | E3 ubiquitin-protein ligase TRIM17 | Mus musculus (Mouse) | PR |
| Q1XH17 | Trim72 | Tripartite motif-containing protein 72 | Mus musculus (Mouse) | PR |
| Q60953 | Pml | Protein PML | Mus musculus (Mouse) | PR |
| Q99PQ1 | Trim12a | Tripartite motif-containing protein 12A | Mus musculus (Mouse) | PR |
| Q61510 | Trim25 | E3 ubiquitin/ISG15 ligase TRIM25 | Mus musculus (Mouse) | PR |
| Q810I2 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Mus musculus (Mouse) | PR |
| Q1PSW8 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Mus musculus (Mouse) | PR |
| Q3TL54 | Trim43a | Tripartite motif-containing protein 43A | Mus musculus (Mouse) | PR |
| P86449 | Trim43c | Tripartite motif-containing protein 43C | Mus musculus (Mouse) | PR |
| Q9JJ26 | Mefv | Pyrin | Mus musculus (Mouse) | SS |
| O77666 | TRIM26 | Tripartite motif-containing protein 26 | Sus scrofa (Pig) | PR |
| O19085 | TRIM10 | Tripartite motif-containing protein 10 | Sus scrofa (Pig) | PR |
| Q865W2 | TRIM50 | E3 ubiquitin-protein ligase TRIM50 | Sus scrofa (Pig) | PR |
| Q920M2 | Rnf39 | RING finger protein 39 | Rattus norvegicus (Rat) | PR |
| A0JPQ4 | Trim72 | Tripartite motif-containing protein 72 | Rattus norvegicus (Rat) | PR |
| Q810I1 | Trim50 | E3 ubiquitin-protein ligase TRIM50 | Rattus norvegicus (Rat) | PR |
| D3ZVM4 | Trim71 | E3 ubiquitin-protein ligase TRIM71 | Rattus norvegicus (Rat) | PR |
| Q9JJ25 | Mefv | Pyrin | Rattus norvegicus (Rat) | SS |
| F6QEU4 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q640S6 | trim72 | Tripartite motif-containing protein 72 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| E7FAM5 | trim71 | E3 ubiquitin-protein ligase TRIM71 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKTPSDHLL | STLEELVPYD | FEKFKFKLQN | TSVQKEHSRI | PRSQIQRARP | VKMATLLVTY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YGEEYAVQLT | LQVLRAINQR | LLAEELHRAA | IQEYSTQENG | TDDSAASSSL | GENKPRSLKT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PDHPEGNEGN | GPRPYGGGAA | SLRCSQPEAG | RGLSRKPLSK | RREKASEGLD | AQGKPRTRSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALPGGRSPGP | CRALEGGQAE | VRLRRNASSA | GRLQGLAGGA | PGQKECRPFE | VYLPSGKMRP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RSLEVTISTG | EKAPANPEIL | LTLEEKTAAN | LDSATEPRAR | PTPDGGASAD | LKEGPGNPEH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SVTGRPPDTA | ASPRCHAQEG | DPVDGTCVRD | SCSFPEAVSG | HPQASGSRSP | GCPRCQDSHE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RKSPGSLSPQ | PLPQCKRHLK | QVQLLFCEDH | DEPICLICSL | SQEHQGHRVR | PIEEVALEHK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KKIQKQLEHL | KKLRKSGEEQ | RSYGEEKAVS | FLKQTEALKQ | RVQRKLEQVY | YFLEQQEHFF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VASLEDVGQM | VGQIRKAYDT | RVSQDIALLD | ALIGELEAKE | CQSEWELLQD | IGDILHRAKT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VPVPEKWTTP | QEIKQKIQLL | HQKSEFVEKS | TKYFSETLRS | EMEMFNVPEL | IGAQAHAVNV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ILDAETAYPN | LIFSDDLKSV | RLGNKWERLP | DGPQRFDSCI | IVLGSPSFLS | GRRYWEVEVG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DKTAWILGAC | KTSISRKGNM | TLSPENGYWV | VIMMKENEYQ | ASSVPPTRLL | IKEPPKRVGI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FVDYRVGSIS | FYNVTARSHI | YTFASCSFSG | PLQPIFSPGT | RDGGKNTAPL | TICPVGGQGP |
| D |