O95786
EV
Gene name |
RIGI (DDX58) |
Protein name |
Antiviral innate immune response receptor RIG-I |
Names |
ATP-dependent RNA helicase DDX58, DEAD box protein 58, RIG-I-like receptor 1, RLR-1, RNA sensor RIG-I, Retinoic acid-inducible gene 1 protein, RIG-1, Retinoic acid-inducible gene I protein, RIG-I |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23586 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
HELICASE WITH DEATH DOMAIN-RELATED (PTHR14074) |
Descriptions
RIG-I senses subtle differences between endogenous and viral RNA in the cytoplasm, triggering an antiviral immune response through induction of type I interferons and other inflammatory mediators. The C-terminal domain (CTD) is responsible for the recognition of viral RNA with a 5' triphosphate modification, while the CARD domains serve as a trigger for downstream signaling, leading to the induction of type I IFN. The intramolecular interactions between CTD and CARDs, and HEL2i and CARDs maintain inactive state of RIG-I
Autoinhibitory domains (AIDs)
Target domain |
1-187 (CARD domain) |
Relief mechanism |
Ligand binding |
Assay |
Mutagenesis experiment, Structural analysis |
Target domain |
1-187 (CARD domain) |
Relief mechanism |
Ligand binding |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
References
- Sikorska J et al. (2023) "Characterization of RNA driven structural changes in full length RIG-I leading to its agonism or antagonism", Nucleic acids research, 51, 9356-9368
- Ramanathan A et al. (2016) "The autoinhibitory CARD2-Hel2i Interface of RIG-I governs RNA selection", Nucleic acids research, 44, 896-909
- Zheng J et al. (2015) "High-resolution HDX-MS reveals distinct mechanisms of RNA recognition and activation by RIG-I and MDA5", Nucleic acids research, 43, 1216-30
- Oshiumi H et al. (2013) "A distinct role of Riplet-mediated K63-Linked polyubiquitination of the RIG-I repressor domain in human antiviral innate immune responses", PLoS pathogens, 9, e1003533
Autoinhibited structure
Activated structure
41 structures for O95786
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2LWD | NMR | - | A | 95-190 | PDB |
| 2LWE | NMR | - | A | 95-190 | PDB |
| 2QFB | X-ray | 300 A | A/B/C/D/E/F/G/H/I/J | 802-925 | PDB |
| 2QFD | X-ray | 270 A | A/B/C/D/E/F/G/H/I/J | 802-925 | PDB |
| 2RMJ | NMR | - | A | 792-925 | PDB |
| 2YKG | X-ray | 250 A | A | 230-925 | PDB |
| 3LRN | X-ray | 260 A | A/B | 803-923 | PDB |
| 3LRR | X-ray | 215 A | A/B | 803-923 | PDB |
| 3NCU | X-ray | 255 A | A/B | 792-925 | PDB |
| 3OG8 | X-ray | 240 A | A/B | 802-925 | PDB |
| 3ZD6 | X-ray | 280 A | A | 230-925 | PDB |
| 3ZD7 | X-ray | 250 A | A | 230-925 | PDB |
| 4AY2 | X-ray | 280 A | A | 239-925 | PDB |
| 4BPB | X-ray | 258 A | A | 230-925 | PDB |
| 4NQK | X-ray | 370 A | A/B/C/D | 1-200 | PDB |
| 4ON9 | X-ray | 271 A | A/B | 230-793 | PDB |
| 4P4H | X-ray | 340 A | A/B/C/D/E/F/G/H | 1-201 | PDB |
| 5E3H | X-ray | 270 A | A | 232-925 | PDB |
| 5F98 | X-ray | 328 A | A/C/E/G/I/K | 232-925 | PDB |
| 5F9F | X-ray | 260 A | A/C/E/G/I/K | 232-925 | PDB |
| 5F9H | X-ray | 310 A | A/C/E/G/I/K | 232-925 | PDB |
| 6GPG | X-ray | 289 A | A | 232-925 | PDB |
| 6KYV | X-ray | 300 A | B/D/F/H/J/L | 242-922 | PDB |
| 7BAH | X-ray | 189 A | A/B | 802-925 | PDB |
| 7BAI | X-ray | 340 A | A/B/E | 802-925 | PDB |
| 7JL1 | EM | 390 A | A | 204-925 | PDB |
| 7JL3 | EM | 420 A | A/C/E | 204-925 | PDB |
| 7MK1 | X-ray | 190 A | A/B | 801-925 | PDB |
| 7TNX | EM | 354 A | A | 1-925 | PDB |
| 7TNY | EM | 320 A | A | 1-925 | PDB |
| 7TNZ | EM | 354 A | A | 1-925 | PDB |
| 7TO0 | EM | 350 A | A | 1-925 | PDB |
| 7TO1 | EM | 366 A | A | 1-925 | PDB |
| 7TO2 | EM | 320 A | A | 1-925 | PDB |
| 8DVR | EM | 330 A | A | 1-925 | PDB |
| 8DVS | EM | 300 A | A | 1-925 | PDB |
| 8DVU | EM | 290 A | A | 1-925 | PDB |
| 8G7T | EM | 320 A | A/C | 1-925 | PDB |
| 8G7U | EM | 400 A | A/C | 1-925 | PDB |
| 8G7V | EM | 390 A | A/C | 1-925 | PDB |
| AF-O95786-F1 | Predicted | AlphaFoldDB |
691 variants for O95786
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001859207 RCV001199120 rs760088776 |
133 | N>missing | Singleton-Merten syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA199250 RCV000169761 rs786204848 |
268 | C>F | Singleton-Merten syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA199248 RCV000169760 rs786204847 |
373 | E>A | Singleton-Merten syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5019880 rs267602206 COSM1674449 RCV001837279 |
411 | S>L | large_intestine Singleton-Merten syndrome 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1587586052 RCV000988170 CA373153157 |
510 | E>V | Singleton-Merten syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001198678 rs145874548 |
621 | E>D | Singleton-Merten syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001197601 rs771103623 |
790 | I>L | Singleton-Merten syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5020204 rs747957999 |
2 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5020203 rs778638505 |
3 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1415582557 CA373151391 |
4 | E>A | No |
ClinGen Ensembl |
|
|
rs1477752451 CA373151398 |
4 | E>K | No |
ClinGen gnomAD |
|
|
CA5020200 rs780038162 |
5 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs775079268 CA192343449 |
6 | R>* | No |
ClinGen Ensembl |
|
|
rs10813831 COSM3763882 CA5020199 |
7 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs952525617 CA192343442 |
7 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs971511178 CA192343428 |
8 | S>C | No |
ClinGen Ensembl |
|
|
CA5020197 rs767877838 |
8 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1434320972 CA373151228 |
9 | L>R | No |
ClinGen gnomAD |
|
|
CA373151186 rs762091949 |
11 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5020196 rs762091949 |
11 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216609994 CA373151141 |
13 | Q>* | No |
ClinGen gnomAD |
|
|
rs1339683893 CA373151133 |
13 | Q>R | No |
ClinGen gnomAD |
|
|
rs1401827010 CA373151029 |
17 | R>W | No |
ClinGen gnomAD |
|
|
rs764605729 CA5020194 |
18 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA373151002 rs763359633 |
18 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393175618 CA373150980 |
20 | L>V | No |
ClinGen gnomAD |
|
|
CA5020192 rs371507145 |
21 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1168928791 CA373150965 |
21 | D>Y | No |
ClinGen gnomAD |
|
|
CA373150939 rs1400166287 |
22 | P>L | No |
ClinGen TOPMed |
|
|
rs770264785 CA5020191 |
23 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5020190 rs772728949 |
24 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5020187 rs771743278 |
27 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5020186 rs144993038 |
28 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778513608 CA5020185 |
29 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5020184 rs141881816 COSM185671 |
30 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5020183 rs147964586 |
30 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373150747 rs1220356112 |
31 | P>S | No |
ClinGen gnomAD |
|
|
rs1342843004 CA373150687 |
34 | R>G | No |
ClinGen gnomAD |
|
|
CA373143650 rs1178653830 |
36 | E>G | No |
ClinGen gnomAD |
|
|
rs768297267 CA5020166 |
37 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775318886 CA5020164 |
38 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs749060193 CA373143611 |
38 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5020165 rs749060193 |
38 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1016865792 CA192328221 |
39 | Q>* | No |
ClinGen Ensembl |
|
|
CA373143575 rs1004149924 |
39 | Q>H | No |
ClinGen gnomAD |
|
|
rs1399427479 CA373143563 |
40 | Y>C | No |
ClinGen gnomAD |
|
|
CA373143489 rs1354604602 |
43 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA373143501 rs1006937906 |
43 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA192328215 rs1006937906 |
43 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373143497 rs1354604602 |
43 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5020162 rs745868616 |
44 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1368137698 CA373143461 |
45 | K>I | No |
ClinGen TOPMed |
|
|
CA373143448 rs1226882014 |
46 | N>Y | No |
ClinGen gnomAD |
|
|
CA192328209 rs375675605 |
47 | N>K | No |
ClinGen ESP |
|
|
rs781264904 CA5020160 |
49 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1456657919 CA373143396 |
50 | P>A | No |
ClinGen TOPMed |
|
|
CA5020159 rs533959324 |
50 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532436689 CA192328192 |
51 | M>T | No |
ClinGen Ensembl |
|
|
rs201116858 CA5020158 |
51 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5020157 rs778151130 |
52 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373143350 rs1295766970 |
52 | E>Q | No |
ClinGen gnomAD |
|
|
CA5020156 rs758594231 |
54 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA373143226 rs1319277439 |
58 | L>V | No |
ClinGen TOPMed |
|
|
CA5020155 rs753033362 |
59 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA192328177 rs997815613 |
63 | E>Q | No |
ClinGen TOPMed |
|
|
CA192328174 rs370894853 |
64 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5020153 rs370894853 |
64 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5020152 rs754398715 |
68 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA373143014 rs754398715 |
68 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs754398715 RCV000489441 CA373143001 |
68 | G>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5020151 rs766805835 |
69 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1587599319 CA373142957 |
70 | F>V | No |
ClinGen Ensembl |
|
|
rs199930187 CA5020150 |
71 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5020149 rs72710678 |
71 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763686077 CA5020148 |
72 | G>S | No |
ClinGen ExAC |
|
|
CA5020147 rs762710111 |
73 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5020146 rs774987746 |
76 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769691196 CA5020145 |
78 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373142787 rs1235561880 |
79 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373165701 rs1471092956 |
81 | G>D | No |
ClinGen TOPMed |
|
|
rs202143547 CA192384975 |
84 | G>R | No |
ClinGen 1000Genomes |
|
|
CA5020124 rs200048274 |
85 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373165603 rs1376111620 |
86 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1394742955 CA373165593 |
87 | E>K | No |
ClinGen TOPMed |
|
|
rs759413709 CA5020122 |
93 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA373165395 rs1179591704 |
94 | F>L | No |
ClinGen gnomAD |
|
|
CA373165360 rs1421240494 |
96 | K>R | No |
ClinGen gnomAD |
|
|
rs375479494 CA192384915 |
97 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs1287181888 CA373165276 |
99 | K>N | No |
ClinGen TOPMed |
|
|
CA5020120 rs150011037 |
100 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373165251 rs1224971025 |
101 | E>Q | No |
ClinGen TOPMed |
|
|
rs1280351851 CA373165186 |
103 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA192384907 rs967970507 |
104 | R>G | No |
ClinGen Ensembl |
|
|
CA373165107 rs1252627028 |
107 | L>S | No |
ClinGen TOPMed |
|
|
CA373165083 rs1350962597 |
108 | K>R | No |
ClinGen gnomAD |
|
|
CA5020117 rs760734230 |
109 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5020116 rs772999380 COSM1108180 |
109 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5020115 rs772251490 |
110 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310361661 CA373164957 |
114 | F>L | No |
ClinGen gnomAD |
|
|
CA373164945 rs1409893414 |
114 | F>S | No |
ClinGen TOPMed |
|
|
CA373164845 rs1481506036 |
117 | R>S | No |
ClinGen TOPMed |
|
|
rs748171130 CA5020114 |
120 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5020113 rs779210566 |
121 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1022648197 CA192384876 |
121 | T>N | No |
ClinGen Ensembl |
|
|
rs780438075 CA5020110 |
122 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749687427 CA5020111 COSM168162 |
122 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5020109 rs556280930 |
123 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs922579030 CA192384867 |
123 | I>V | No |
ClinGen TOPMed |
|
|
rs1029366581 CA192384849 |
124 | I>V | No |
ClinGen TOPMed |
|
|
rs750988335 CA5020108 |
126 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781550090 CA5020107 |
127 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA192384809 rs557464203 |
130 | C>S | No |
ClinGen Ensembl |
|
|
CA373164534 rs1354035436 |
132 | I>S | No |
ClinGen gnomAD |
|
|
rs376982520 CA5020105 |
132 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283597620 CA373164511 |
133 | N>D | No |
ClinGen TOPMed |
|
|
rs1245081601 CA373164426 |
135 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764960499 CA5020103 |
136 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5020101 rs200728665 |
138 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146306229 CA5020102 |
138 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5020100 rs78786043 |
139 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5020098 rs373568463 |
141 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373568463 CA5020099 |
141 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs935276481 CA192384766 |
141 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5020072 rs55789327 |
144 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373163901 rs1187290049 |
145 | T>I | No |
ClinGen TOPMed |
|
|
CA373163863 rs1192580245 |
148 | M>L | No |
ClinGen gnomAD |
|
|
CA5020071 rs576017922 |
149 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1254591679 CA373163800 |
150 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747516768 CA5020069 |
152 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754600390 CA5020067 |
156 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA373163619 rs1165013300 |
158 | C>Y | No |
ClinGen TOPMed |
|
|
rs779865664 CA5020065 |
160 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs755684008 CA5020064 |
164 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750059870 CA5020063 |
165 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373163451 rs970691810 |
166 | N>D | No |
ClinGen gnomAD |
|
|
CA192383566 rs888197443 |
166 | N>K | No |
ClinGen TOPMed |
|
|
rs970691810 CA192383571 |
166 | N>Y | No |
ClinGen gnomAD |
|
|
CA373163422 rs767267103 |
167 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs767267103 CA5020062 |
167 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA373163394 rs1413305842 |
168 | P>L | No |
ClinGen gnomAD |
|
|
rs757063794 CA5020061 |
168 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs376516048 CA5020060 |
170 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373163350 rs376516048 |
170 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192383549 rs1021891546 |
172 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA373163248 rs1176487634 |
176 | E>D | No |
ClinGen gnomAD |
|
|
rs763037151 CA5020058 |
176 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763037151 CA5020057 |
176 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA192383541 rs920906730 |
179 | R>T | No |
ClinGen TOPMed |
|
|
rs775496086 CA5020056 |
180 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11795404 CA192383533 |
183 | S>I | No |
ClinGen Ensembl |
|
|
CA5020055 rs765471170 |
186 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373163001 rs1333187169 |
187 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5020054 rs150806962 |
187 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269146271 CA373162989 |
188 | V>A | No |
ClinGen TOPMed |
|
|
rs770601734 CA192383517 |
188 | V>L | No |
ClinGen TOPMed |
|
|
rs1440680765 CA373162953 |
190 | K>Q | No |
ClinGen gnomAD |
|
|
CA192382753 rs550977928 |
192 | I>V | No |
ClinGen TOPMed |
|
|
rs1249884490 CA373161569 |
194 | D>G | No |
ClinGen TOPMed |
|
|
CA5020031 rs766555144 |
194 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1334700393 CA373161555 |
195 | V>I | No |
ClinGen gnomAD |
|
|
rs773661897 CA5020029 |
197 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5020030 rs773661897 |
197 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA373161450 rs1210771148 |
199 | D>N | No |
ClinGen TOPMed |
|
|
rs1563966913 CA373161410 |
200 | L>P | No |
ClinGen Ensembl |
|
|
rs772534390 CA373161352 |
202 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5020028 rs772534390 |
202 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356786118 CA373161331 |
203 | K>Q | No |
ClinGen gnomAD |
|
|
CA373161325 rs1295866067 |
203 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5020026 rs192375800 |
205 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187810594 CA5020025 |
205 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5020027 rs192375800 |
205 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1160935656 CA373161173 |
208 | D>A | No |
ClinGen gnomAD |
|
|
rs1199940785 CA373161155 |
209 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373161133 rs1370943160 |
209 | I>M | No |
ClinGen TOPMed |
|
|
rs1199940785 CA373161150 |
209 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs745320070 CA5020024 |
210 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416979331 CA373161106 |
210 | Q>H | No |
ClinGen gnomAD |
|
|
rs1482617932 CA373161038 |
213 | Y>S | No |
ClinGen gnomAD |
|
|
rs1476174058 CA373160874 |
219 | C>R | No |
ClinGen gnomAD |
|
|
CA192382724 rs762681860 |
220 | Q>* | No |
ClinGen Ensembl |
|
|
CA5020021 rs141339092 |
221 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373160749 rs777580748 |
223 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5020019 rs758164601 |
223 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5020020 rs777580748 |
223 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244068189 CA373160709 |
225 | N>D | No |
ClinGen gnomAD |
|
|
rs148258613 CA5020018 |
226 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5020006 rs776171127 |
234 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA373159460 rs1253972085 |
234 | D>N | No |
ClinGen gnomAD |
|
|
rs770311267 CA5020005 |
235 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5020004 rs746709128 |
235 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347809447 CA373159404 |
237 | L>V | No |
ClinGen gnomAD |
|
|
CA5020003 rs772834071 |
237 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA373159348 rs771919023 |
238 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5020001 rs747869410 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA373159305 rs1351750726 |
241 | F>L | No |
ClinGen TOPMed |
|
|
rs1213337009 CA373159279 |
242 | K>T | No |
ClinGen TOPMed |
|
|
rs778728554 CA5020000 |
243 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1108175 CA5019999 rs143106649 |
244 | R>I | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5019998 rs749357716 |
245 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs141808660 CA5019997 |
245 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373159208 rs1185880252 |
246 | Y>* | No |
ClinGen TOPMed |
|
|
CA5019995 rs750742821 |
251 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1174076764 CA373159076 |
253 | P>L | No |
ClinGen gnomAD |
|
|
CA373159064 rs1453962234 |
254 | A>D | No |
ClinGen gnomAD |
|
|
rs1470811937 CA373159073 |
254 | A>T | No |
ClinGen TOPMed |
|
|
CA192381356 rs921634647 |
255 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373159012 rs1195826594 |
256 | K>E | No |
ClinGen gnomAD |
|
|
rs1563966259 CA373159006 |
256 | K>T | No |
ClinGen Ensembl |
|
|
rs1438208438 CA373158994 |
257 | G>R | No |
ClinGen gnomAD |
|
|
rs1250304742 CA373158977 |
258 | K>E | No |
ClinGen gnomAD |
|
|
rs1358644775 CA373158953 |
259 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5019993 rs767783247 |
260 | T>I | No |
ClinGen ExAC |
|
|
CA192381348 rs35527044 |
260 | T>P | No |
ClinGen Ensembl |
|
|
rs766229375 CA192381346 |
261 | I>T | No |
ClinGen Ensembl |
|
|
rs574265075 CA5019992 |
261 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376053763 CA5019991 |
262 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481918980 CA373158896 |
262 | I>T | No |
ClinGen gnomAD |
|
|
CA373158884 rs1208102166 |
263 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA373158888 rs1208102166 |
263 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1587591911 CA373158825 |
267 | G>S | No |
ClinGen Ensembl |
|
|
rs764396824 CA5019975 |
269 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1009983401 CA192381049 |
271 | T>S | No |
ClinGen Ensembl |
|
|
rs1318595426 CA373158680 |
275 | L>Q | No |
ClinGen gnomAD |
|
|
CA373158653 rs1414165350 |
277 | I>M | No |
ClinGen gnomAD |
|
|
CA373158618 rs1314864699 |
280 | H>Y | No |
ClinGen gnomAD |
|
|
rs781591155 CA5019972 |
283 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5019971 rs757517985 |
288 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1416225839 CA373158507 |
289 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5019970 rs751704201 |
289 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs758674362 CA5019968 |
292 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA192380979 rs1022852376 |
293 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA192380975 rs1022852376 |
293 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753311526 CA5019967 |
295 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA373158413 rs1422007355 |
296 | F>L | No |
ClinGen TOPMed |
|
|
CA373158405 rs765663574 |
297 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019966 rs765663574 |
297 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767187831 CA373158374 |
299 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs767187831 CA5019963 |
299 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs761566039 CA5019962 |
301 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5019961 rs773862524 |
302 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5019960 rs768563204 |
305 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1225348783 CA373158297 |
306 | Q>R | No |
ClinGen gnomAD |
|
|
rs775583741 CA5019957 |
314 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs115724998 CA192380915 |
317 | H>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA5019956 rs769808268 |
318 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA373158157 rs1392706557 |
318 | G>R | No |
ClinGen gnomAD |
|
|
CA5019935 rs146951627 |
319 | Y>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA373158135 rs146951627 |
319 | Y>F | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1359507696 CA373158118 |
322 | T>A | No |
ClinGen TOPMed |
|
|
rs531295122 CA5019934 |
322 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA192380063 rs531295122 |
322 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746997669 CA5019933 |
323 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778072993 CA5019932 |
324 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373158110 rs1207393747 |
324 | I>V | No |
ClinGen gnomAD |
|
|
CA5019931 rs367932258 |
325 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373158083 rs1235384504 |
328 | T>R | No |
ClinGen gnomAD |
|
|
CA373158064 rs1373610965 |
331 | N>T | No |
ClinGen gnomAD |
|
|
CA192380043 rs563941149 |
333 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1336874298 CA373158047 |
334 | V>M | No |
ClinGen gnomAD |
|
|
rs921357566 CA192380032 |
337 | I>M | No |
ClinGen Ensembl |
|
|
rs1328879649 CA373158020 |
338 | V>I | No |
ClinGen gnomAD |
|
|
rs375232568 CA5019928 |
339 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373158008 rs375232568 |
339 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373157966 rs1373158797 |
345 | I>T | No |
ClinGen gnomAD |
|
|
rs780471002 CA5019926 |
345 | I>V | No |
ClinGen ExAC |
|
|
rs964942293 CA192380021 |
346 | L>V | No |
ClinGen Ensembl |
|
|
rs756803748 CA5019925 |
349 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs948103159 CA192380001 |
350 | I>M | No |
ClinGen TOPMed |
|
|
CA373157930 rs1243284589 |
351 | L>F | No |
ClinGen gnomAD |
|
|
rs763836648 CA5019923 |
354 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758022802 CA5019922 |
355 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5019921 rs752372329 |
356 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145457417 CA5019920 |
358 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1461977 CA5019919 rs759405155 |
359 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373157868 rs1321525658 |
361 | P>T | No |
ClinGen gnomAD |
|
|
rs1026610965 CA192379959 |
364 | S>C | No |
ClinGen TOPMed |
|
|
rs971930527 CA192379929 |
365 | I>M | No |
ClinGen TOPMed |
|
|
CA5019913 rs748419630 |
368 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1563965783 CA373157819 |
369 | M>V | No |
ClinGen Ensembl |
|
|
RCV000520724 CA373157783 rs1554667396 |
373 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5019912 rs774551466 |
376 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019911 rs769012265 |
377 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs896201264 CA373157689 |
380 | Q>H | No |
ClinGen gnomAD |
|
|
rs780631753 CA5019909 |
382 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5019907 rs141073676 |
382 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019908 rs141073676 |
382 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780631753 CA373157665 |
382 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA373157653 rs1161246091 |
383 | Y>H | No |
ClinGen gnomAD |
|
|
CA5019905 rs61756273 |
384 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564730194 CA5019904 |
387 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5019903 rs764920324 |
388 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs888856438 CA192379818 |
389 | N>S | No |
ClinGen TOPMed |
|
|
rs1030037337 CA192379808 |
390 | Y>* | No |
ClinGen TOPMed |
|
|
rs750416435 CA192379802 |
393 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019902 rs750416435 |
393 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447906391 CA373157408 |
398 | S>P | No |
ClinGen gnomAD |
|
|
CA192379790 rs945654330 |
400 | G>R | No |
ClinGen Ensembl |
|
|
rs1231941446 CA373157352 |
402 | L>P | No |
ClinGen gnomAD |
|
|
rs766373221 CA5019899 |
403 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766373221 CA5019900 |
403 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753510682 CA5019883 |
405 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951618 CA5019882 |
406 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750650868 CA5019881 |
411 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1459420566 CA373156076 |
413 | G>S | No |
ClinGen gnomAD |
|
|
CA373156058 rs1259517903 |
414 | V>A | No |
ClinGen TOPMed |
|
|
CA373156032 rs1352783116 |
415 | G>A | No |
ClinGen gnomAD |
|
|
CA373156021 rs1425540880 |
416 | D>V | No |
ClinGen TOPMed |
|
|
rs1447151503 CA373155962 |
420 | T>I | No |
ClinGen gnomAD |
|
|
rs761902508 CA5019878 |
421 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019877 rs751596751 |
421 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs144962975 CA5019876 |
423 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1368041403 CA373155922 |
423 | A>T | No |
ClinGen TOPMed |
|
|
CA373155910 rs1192055334 |
424 | L>S | No |
ClinGen gnomAD |
|
|
CA5019875 rs144361980 |
425 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201032144 CA5019874 |
426 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1002390870 CA192379523 |
426 | Y>H | No |
ClinGen Ensembl |
|
|
CA373155823 rs1249072824 |
431 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA373155810 rs1419435701 |
432 | A>G | No |
ClinGen TOPMed |
|
|
rs373034507 CA192379488 |
434 | L>F | No |
ClinGen gnomAD |
|
|
rs373034507 CA373155796 |
434 | L>V | No |
ClinGen gnomAD |
|
|
rs139635230 CA5019871 |
436 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019869 rs747694771 |
437 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA373155730 rs1397161949 |
440 | A>P | No |
ClinGen TOPMed |
|
|
CA5019868 rs778609125 |
441 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA192379474 rs892682014 |
442 | V>I | No |
ClinGen TOPMed |
|
|
rs201907575 CA5019866 |
443 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5019865 rs199992038 |
444 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755874425 CA5019864 |
446 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755874425 CA373155650 |
446 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1297622155 CA373155637 |
447 | E>D | No |
ClinGen gnomAD |
|
|
CA5019863 rs750183247 |
448 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5019862 rs140044460 |
450 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373155567 rs1215603051 |
453 | V>A | No |
ClinGen TOPMed |
|
|
CA5019860 rs751473766 |
454 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs369552113 CA5019857 |
456 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192377584 rs778631234 |
462 | K>E | No |
ClinGen Ensembl |
|
|
rs1387914886 CA373154943 |
463 | V>A | No |
ClinGen TOPMed |
|
|
rs745588512 CA5019810 |
466 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769162572 COSM70423 CA5019811 |
466 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5019809 rs144232121 |
468 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373154835 rs1282860975 |
469 | D>G | No |
ClinGen TOPMed |
|
|
rs368484093 CA5019807 |
469 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373154845 rs368484093 |
469 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019806 rs200852601 |
471 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373154796 rs1451062719 |
471 | F>Y | No |
ClinGen gnomAD |
|
|
rs1224772561 CA373154701 |
476 | A>G | No |
ClinGen TOPMed |
|
|
rs758319610 CA5019805 |
476 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5019804 rs748007335 |
480 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019803 rs779099505 |
480 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA192377561 rs528176202 |
480 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5019801 rs754181145 |
482 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs754181145 CA373154575 |
482 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1338887136 CA373154550 |
483 | E>G | No |
ClinGen gnomAD |
|
|
CA373154497 rs1230941994 |
485 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1346144126 CA373154481 |
486 | A>T | No |
ClinGen gnomAD |
|
|
CA373154458 rs1303159262 |
487 | K>R | No |
ClinGen gnomAD |
|
|
rs374762120 CA192377549 |
488 | R>I | No |
ClinGen ESP gnomAD |
|
|
rs1563964779 CA373154425 |
489 | I>T | No |
ClinGen Ensembl |
|
|
rs756569146 CA5019797 |
489 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs149324503 CA5019796 |
493 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371210069 CA5019794 |
494 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759065592 CA5019769 |
497 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753309888 CA373153387 |
498 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1587586091 CA373153400 |
498 | Q>K | No |
ClinGen Ensembl |
|
|
CA373153379 rs1444460674 |
499 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769889930 CA192374605 |
500 | Q>H | No |
ClinGen Ensembl |
|
|
rs199889474 CA192374607 |
500 | Q>K | No |
ClinGen 1000Genomes |
|
|
rs1587586072 CA373153370 |
500 | Q>R | No |
ClinGen Ensembl |
|
|
CA5019767 rs765847746 |
502 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5019766 rs760371675 |
504 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1330429947 CA373153275 |
505 | G>R | No |
ClinGen gnomAD |
|
|
CA373153174 rs1563963527 |
509 | Y>* | No |
ClinGen Ensembl |
|
|
rs771971336 CA5019764 |
511 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA373153101 rs1448362795 |
513 | I>L | No |
ClinGen gnomAD |
|
|
rs761448006 CA5019763 |
514 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019761 rs139600630 |
515 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373153022 rs1161361977 |
517 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs558038233 CA192374502 |
525 | M>V | No |
ClinGen gnomAD |
|
|
rs532802115 COSM335291 CA5019757 |
527 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1226156349 CA373152679 |
530 | E>G | No |
ClinGen gnomAD |
|
|
CA373152649 rs1188336899 |
531 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs781202021 CA5019755 |
532 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs778379554 CA5019752 |
534 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1293442037 CA373152534 |
535 | C>R | No |
ClinGen TOPMed |
|
|
CA5019751 rs371259089 |
537 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019750 rs371259089 |
537 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760175343 CA5019748 |
538 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192374441 rs143658015 |
541 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373152377 rs143658015 |
541 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750097367 CA5019747 |
541 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA373152354 rs1365749874 |
543 | S>* | No |
ClinGen gnomAD |
|
|
CA373152341 rs1214171169 |
544 | H>Y | No |
ClinGen TOPMed |
|
|
rs61752945 CA5019743 |
546 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377702259 COSM280344 CA5019744 |
546 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA373152161 rs1387877837 |
547 | K>N | No |
ClinGen TOPMed |
|
|
CA5019721 rs759689916 |
549 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1249052652 CA373152079 |
550 | D>E | No |
ClinGen gnomAD |
|
|
CA373152070 rs1330031611 |
551 | A>V | No |
ClinGen TOPMed |
|
|
rs1563963149 CA373152044 |
553 | I>V | No |
ClinGen Ensembl |
|
|
rs1483179770 CA373152037 |
554 | I>F | No |
ClinGen gnomAD |
|
|
CA373152010 rs1230570062 |
555 | S>G | No |
ClinGen TOPMed |
|
|
rs747257290 CA5019717 |
556 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs771023122 CA5019718 |
556 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1563963141 CA373151957 |
557 | H>R | No |
ClinGen Ensembl |
|
|
CA5019716 rs773422076 |
559 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220923220 CA373151890 |
560 | M>R | No |
ClinGen gnomAD |
|
|
CA192373648 rs112437427 |
567 | L>S | No |
ClinGen Ensembl |
|
|
CA5019713 rs779421098 |
568 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192373647 rs922740392 |
569 | D>V | No |
ClinGen Ensembl |
|
|
CA373151579 rs1243690303 |
572 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5019712 rs755440232 |
573 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1301373864 CA373151521 |
574 | V>L | No |
ClinGen gnomAD |
|
|
rs371404578 COSM185657 CA5019710 |
575 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs371404578 CA5019711 |
575 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373151480 rs1587585175 |
575 | R>Q | No |
ClinGen Ensembl |
|
|
rs367656115 CA5019709 |
576 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316590432 CA373151424 |
578 | G>A | No |
ClinGen gnomAD |
|
|
rs1563963119 CA373151414 |
579 | F>V | No |
ClinGen Ensembl |
|
|
COSM3763881 VAR_023748 rs17217280 CA5019706 |
580 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5019707 rs763777619 |
580 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752734310 CA5019705 |
582 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1477623290 CA373151359 |
582 | I>V | No |
ClinGen TOPMed |
|
|
CA5019704 rs371685816 |
583 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019703 rs759443243 |
584 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs952857720 CA373151286 |
585 | D>G | No |
ClinGen gnomAD |
|
|
CA192373569 rs952857720 |
585 | D>V | No |
ClinGen gnomAD |
|
|
rs766439817 CA5019701 |
588 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs143007332 CA5019698 |
590 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019699 rs773436516 |
590 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373151071 rs1164350511 |
591 | E>A | No |
ClinGen gnomAD |
|
|
rs762197606 CA5019697 |
591 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1437931620 CA373149669 |
593 | K>E | No |
ClinGen gnomAD |
|
|
rs1262250100 CA373149579 |
595 | Q>L | No |
ClinGen gnomAD |
|
|
CA5019674 rs774549455 |
596 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA373149535 rs768906745 |
596 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1165156993 CA373149511 |
597 | L>P | No |
ClinGen gnomAD |
|
|
CA373149517 rs1368673256 |
597 | L>V | No |
ClinGen gnomAD |
|
|
rs149221979 CA5019671 |
598 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373149477 rs770291257 |
599 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372302203 CA192370456 |
599 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs770291257 CA5019670 |
599 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192370444 rs200797004 |
601 | S>C | No |
ClinGen ExAC |
|
|
CA5019669 rs200797004 |
601 | S>F | No |
ClinGen ExAC |
|
|
rs867880232 CA192370450 |
601 | S>P | No |
ClinGen Ensembl |
|
|
rs958657860 CA192370431 |
602 | R>G | No |
ClinGen gnomAD |
|
|
CA5019667 rs771698043 |
604 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1318589637 CA373149291 |
606 | N>D | No |
ClinGen TOPMed |
|
|
rs190936151 CA5019665 |
607 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA192370387 rs999900277 |
608 | N>K | No |
ClinGen Ensembl |
|
|
CA373149239 rs1341836601 |
608 | N>Y | No |
ClinGen gnomAD |
|
|
rs1231170695 CA373149226 |
609 | P>H | No |
ClinGen gnomAD |
|
|
rs1298839859 CA373149231 |
609 | P>S | No |
ClinGen gnomAD |
|
|
rs753621232 CA5019663 |
611 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753621232 CA373149177 |
611 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385733056 CA373149091 |
616 | F>L | No |
ClinGen gnomAD |
|
|
rs145391400 CA5019662 |
617 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320157744 CA373149021 |
618 | L>* | No |
ClinGen TOPMed |
|
|
rs528724822 CA5019661 |
619 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368614061 CA5019659 |
620 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA192370350 rs1020073092 |
620 | E>K | No |
ClinGen Ensembl |
|
|
CA5019657 rs140681302 |
622 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373148858 rs549735258 |
623 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373148796 rs763254568 |
626 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763254568 CA5019654 |
626 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775960738 CA5019653 |
627 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765494663 CA5019652 |
628 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760180730 CA5019651 |
629 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019650 rs146844137 |
630 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373568823 CA5019649 |
631 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373148637 rs1563962144 |
634 | V>M | No |
ClinGen Ensembl |
|
|
CA5019648 rs747607387 |
636 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019647 rs773899091 |
637 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019646 rs768315405 |
637 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1131691305 RCV000494406 CA373148554 |
639 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5019645 rs748863702 |
640 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373148516 rs755898188 |
641 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373147945 COSM85160 rs1412859759 |
642 | A>P | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1422127468 CA373147920 |
644 | K>R | No |
ClinGen TOPMed |
|
|
rs1381126591 CA373147908 |
645 | N>I | No |
ClinGen TOPMed |
|
|
rs1471952776 CA373147913 |
645 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5019622 rs781135089 |
647 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757222458 CA5019621 |
649 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA373147793 rs1266743596 |
652 | K>N | No |
ClinGen gnomAD |
|
|
rs932409031 CA192366453 |
655 | F>C | No |
ClinGen gnomAD |
|
|
rs1208700894 CA373147737 |
656 | L>P | No |
ClinGen gnomAD |
|
|
rs1327810038 CA373147708 |
658 | P>S | No |
ClinGen gnomAD |
|
|
CA373147669 rs769093487 |
661 | L>* | No |
ClinGen Ensembl |
|
|
CA192366441 rs769093487 |
661 | L>W | No |
ClinGen Ensembl |
|
|
rs139726764 CA5019620 |
664 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5019619 rs367861982 |
664 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192366390 rs957937010 |
666 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA373147516 rs1448473846 |
670 | N>K | No |
ClinGen gnomAD |
|
|
rs1274798098 CA373146570 |
672 | G>E | No |
ClinGen gnomAD |
|
|
rs765501625 CA5019616 |
672 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1168364940 CA373146528 |
675 | L>V | No |
ClinGen gnomAD |
|
|
rs374942642 CA5019600 |
676 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374942642 CA373146501 |
676 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371671432 CA5019597 |
677 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019598 rs748131950 |
677 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5019596 rs755292121 |
678 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019594 rs780624578 |
681 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1312772180 CA373146347 |
685 | F>Y | No |
ClinGen TOPMed |
|
|
rs754776855 CA192362167 |
689 | G>E | No |
ClinGen Ensembl |
|
|
rs1278332792 CA373146278 |
690 | D>G | No |
ClinGen TOPMed |
|
|
CA373146268 rs1409516788 COSM1756118 |
691 | H>Y | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs756431551 CA5019592 |
692 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1217425127 CA373146208 |
696 | A>D | No |
ClinGen gnomAD |
|
|
CA5019589 rs762554871 |
699 | V>D | No |
ClinGen ExAC |
|
|
CA5019586 rs376791494 |
701 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376791494 CA5019587 |
701 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284002312 CA373146144 |
703 | G>S | No |
ClinGen gnomAD |
|
|
rs199834328 CA5019583 |
704 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1410628300 CA373146112 |
706 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1356694502 CA373146117 |
706 | I>V | No |
ClinGen gnomAD |
|
|
rs978402369 CA192362060 |
707 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760332382 CA5019581 |
708 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1563959474 CA373146091 |
710 | N>H | No |
ClinGen Ensembl |
|
|
rs773227030 CA5019580 |
710 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373146082 rs1431057982 |
711 | L>F | No |
ClinGen TOPMed |
|
|
CA373146064 rs1249161964 |
714 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373146048 rs1369483370 |
716 | E>A | No |
ClinGen TOPMed |
|
|
CA192362044 rs535180939 |
717 | Y>C | No |
ClinGen Ensembl |
|
|
rs771868701 CA5019579 |
718 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1439567028 CA373146020 |
720 | N>K | No |
ClinGen TOPMed |
|
|
rs748088224 CA5019578 |
720 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779183751 CA373145990 |
724 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779183751 CA5019577 |
724 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019575 rs749591073 |
727 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA373145827 rs1310923932 |
734 | R>G | No |
ClinGen gnomAD |
|
|
rs1205947511 CA373145773 |
738 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373145735 rs1339245239 |
742 | T>A | No |
ClinGen gnomAD |
|
|
rs373292486 CA192358825 |
742 | T>S | No |
ClinGen Ensembl |
|
|
CA373145728 rs1347925426 |
743 | S>G | No |
ClinGen TOPMed |
|
|
rs1235939575 CA373145701 |
745 | A>S | No |
ClinGen TOPMed |
|
|
rs1437935687 CA373145683 |
746 | G>A | No |
ClinGen gnomAD |
|
|
rs772925636 CA5019559 |
747 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA373145648 rs539721474 |
749 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5019556 rs570533013 |
752 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774428075 CA5019555 |
753 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1365176099 CA373145608 |
753 | I>V | No |
ClinGen gnomAD |
|
|
CA5019553 rs749330817 |
755 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs142767943 CA5019552 |
755 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019551 COSM168026 rs553716308 |
758 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
COSM1108163 rs746076420 CA5019550 |
760 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781464142 CA5019549 |
761 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148502654 CA5019546 |
762 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747516523 CA5019548 |
762 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747516523 CA5019547 |
762 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019545 rs754509057 |
764 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs753309872 CA5019544 |
765 | I>L | No |
ClinGen ExAC |
|
|
CA5019543 rs765885518 |
766 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5019542 rs372515643 |
767 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019541 rs368263807 |
767 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019540 rs376349759 |
769 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1174408220 CA373145439 |
769 | Q>H | No |
ClinGen TOPMed |
|
|
rs1319629886 CA373145433 |
770 | T>I | No |
ClinGen gnomAD |
|
|
CA373145431 rs1281527271 |
771 | W>R | No |
ClinGen gnomAD |
|
|
CA192358734 rs372312705 |
772 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA192358737 rs1032064406 |
772 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373145412 rs1423640286 |
773 | E>D | No |
ClinGen gnomAD |
|
|
rs144181118 RCV000513787 COSM455817 CA5019538 |
773 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs904822679 CA192358718 |
774 | A>T | No |
ClinGen TOPMed |
|
|
rs1046722296 CA192358717 |
776 | F>C | No |
ClinGen TOPMed |
|
|
rs764082325 CA5019537 |
779 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs759601905 CA5019511 |
780 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5019510 rs143722155 |
782 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373144634 rs1255972471 |
783 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373144622 rs986575916 |
784 | Q>* | No |
ClinGen gnomAD |
|
|
rs986575916 CA192352733 |
784 | Q>K | No |
ClinGen gnomAD |
|
|
CA373144595 rs1345665186 |
785 | T>I | No |
ClinGen gnomAD |
|
|
rs955518383 CA192352706 |
786 | H>L | No |
ClinGen Ensembl |
|
|
rs1284787750 COSM1489931 CA373144587 |
786 | H>Y | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1236457872 CA373144524 |
789 | F>I | No |
ClinGen gnomAD |
|
|
CA192352696 rs35253851 |
789 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771103623 CA5019509 |
790 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373144474 rs1399946004 |
791 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1431561099 CA373144444 |
792 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA192352665 rs918803390 |
792 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA373144450 rs918803390 |
792 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs760856237 CA5019506 |
794 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA373144389 rs1439200276 |
795 | E>Q | No |
ClinGen TOPMed |
|
|
CA5019505 rs772417343 |
798 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA373144323 rs1184398427 |
799 | P>L | No |
ClinGen gnomAD |
|
|
CA5019502 rs774180294 |
801 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774180294 CA373144299 |
801 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563956761 CA373144304 |
801 | P>S | No |
ClinGen Ensembl |
|
|
CA373144291 rs1204922283 |
802 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1208459300 CA373144242 |
805 | N>K | No |
ClinGen gnomAD |
|
|
CA373144239 rs1336927977 |
806 | K>Q | No |
ClinGen TOPMed |
|
|
rs1563956742 CA373144153 |
810 | C>Y | No |
ClinGen Ensembl |
|
|
rs1273454974 CA373144132 |
811 | R>G | No |
ClinGen TOPMed |
|
|
rs773947260 CA5019499 |
813 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA373144083 rs1286540189 |
813 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA373144049 rs1211600400 |
815 | A>T | No |
ClinGen TOPMed |
|
|
CA373144034 rs1249718753 |
815 | A>V | No |
ClinGen TOPMed |
|
|
CA5019498 rs780533364 |
816 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA373143988 rs757016683 |
818 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019497 rs757016683 |
818 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019496 rs538144932 |
820 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA192352607 rs1017201531 |
821 | A>D | No |
ClinGen Ensembl |
|
|
rs149989209 CA373143899 |
822 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755657492 COSM1108161 CA5019494 |
823 | V>I | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373143895 rs755657492 |
823 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA192352568 rs1018807219 |
824 | R>S | No |
ClinGen TOPMed |
|
|
CA373143850 rs1161634235 |
825 | V>A | No |
ClinGen TOPMed |
|
|
CA373143860 rs1318646485 |
825 | V>M | No |
ClinGen gnomAD |
|
|
rs532179758 CA5019492 |
826 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5019493 rs552492081 |
826 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5019491 rs373489163 |
827 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373143811 rs1472005712 |
827 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1472005712 CA373143807 |
827 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs767680439 CA5019466 |
828 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1222911556 CA373142667 |
830 | H>Y | No |
ClinGen gnomAD |
|
|
rs567033543 CA5019465 |
832 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373142574 rs1259153560 |
836 | D>G | No |
ClinGen TOPMed |
|
|
CA192350299 rs911044020 |
836 | D>N | No |
ClinGen TOPMed |
|
|
rs1213930166 CA373142552 |
837 | A>V | No |
ClinGen gnomAD |
|
|
rs1362667517 CA373142536 |
838 | F>S | No |
ClinGen gnomAD |
|
|
rs1272029055 CA373142529 |
839 | K>E | No |
ClinGen gnomAD |
|
|
rs774823967 CA5019464 |
839 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA373142465 rs1304055569 |
843 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763580057 CA5019462 |
844 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA373142440 rs770577853 |
845 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5019460 rs770577853 |
845 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs991743179 CA192350262 |
846 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA373142419 rs991743179 |
846 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5019458 rs773027801 |
847 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs746468623 CA5019459 |
847 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs958888973 CA192350232 |
849 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1199769819 CA373142307 |
852 | Q>H | No |
ClinGen gnomAD |
|
|
CA192350231 rs1035839826 |
852 | Q>K | No |
ClinGen TOPMed |
|
|
rs201726738 CA5019457 |
854 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5019456 rs747735182 |
855 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA373142237 rs1464857648 |
856 | F>I | No |
ClinGen TOPMed |
|
|
CA5019455 rs147393239 |
859 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019454 rs754726367 |
859 | R>K | No |
ClinGen ExAC |
|
|
CA373142170 rs754726367 |
859 | R>T | No |
ClinGen ExAC |
|
|
CA5019450 rs779912375 |
860 | A>P | No |
ClinGen ExAC |
|
|
CA192350186 rs142758049 |
861 | K>T | No |
ClinGen ESP TOPMed |
|
|
rs756211210 CA5019449 |
863 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373142093 rs1317699578 |
864 | C>* | No |
ClinGen TOPMed |
|
|
CA5019448 rs750464561 |
864 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1563955899 CA373142097 |
864 | C>Y | No |
ClinGen Ensembl |
|
|
CA373142088 rs1587569488 |
865 | A>P | No |
ClinGen Ensembl |
|
|
CA5019445 rs757554872 |
866 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757554872 CA5019446 |
866 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM185653 CA5019444 rs751722546 |
866 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5019443 rs377457419 |
867 | Q>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1297989197 CA373142060 |
868 | N>S | No |
ClinGen gnomAD |
|
|
CA373142059 rs1297989197 |
868 | N>T | No |
ClinGen gnomAD |
|
|
CA373142047 rs1587569469 |
869 | C>S | No |
ClinGen Ensembl |
|
|
CA373142036 rs1563955889 |
870 | S>T | No |
ClinGen Ensembl |
|
|
rs1443446744 CA373142024 |
871 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs899721027 CA192350126 |
876 | H>R | No |
ClinGen TOPMed |
|
|
CA373141952 rs1479164001 |
877 | V>M | No |
ClinGen TOPMed |
|
|
rs763169413 CA5019442 |
880 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA373141903 rs1563955880 |
881 | T>A | No |
ClinGen Ensembl |
|
|
CA5019441 RCV001316204 rs138425677 |
885 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5019440 rs765797036 |
886 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA5019439 rs760090671 |
887 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1064795754 RCV000478708 CA16618846 |
887 | I>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1563955862 CA373141808 |
889 | I>M | No |
ClinGen Ensembl |
|
|
rs191688102 CA5019438 |
889 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191688102 CA373141810 |
889 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191688102 CA5019437 |
889 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372684517 CA5019436 |
890 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773813270 CA5019435 |
891 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA373141772 rs1458380450 |
893 | V>M | No |
ClinGen TOPMed |
|
|
rs368765122 CA5019433 |
894 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373141762 rs1587569399 |
894 | V>M | No |
ClinGen Ensembl |
|
|
rs780000275 CA5019431 |
898 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA192350044 rs769769104 |
899 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5019430 rs769769104 |
899 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959690242 CA192350043 |
900 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5019429 rs745789527 |
902 | Q>E | No |
ClinGen ExAC |
|
|
CA192349996 rs914224957 |
905 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA373141561 rs1216726606 |
906 | S>L | No |
ClinGen gnomAD |
|
|
rs1376058232 CA373141565 |
906 | S>P | No |
ClinGen gnomAD |
|
|
rs758863718 CA5019424 |
910 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs377348789 CA5019425 |
910 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5019423 rs753151012 |
912 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA5019422 rs77788008 |
916 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5019420 rs760180369 |
917 | P>S | No |
ClinGen ExAC |
|
|
CA192349905 rs1012137541 |
919 | D>G | No |
ClinGen gnomAD |
|
|
rs1409897646 CA373141459 |
920 | P>L | No |
ClinGen gnomAD |
|
|
CA373141452 rs1181639699 |
922 | E>K | No |
ClinGen gnomAD |
|
|
rs1563955785 CA373141438 |
923 | M>I | No |
ClinGen Ensembl |
|
|
CA373141441 rs1489641417 |
923 | M>T | No |
ClinGen TOPMed |
|
|
CA373141428 rs1460834805 |
925 | K>E | No |
ClinGen gnomAD |
|
|
rs1260350530 CA373141415 |
926 | K>C | No |
ClinGen gnomAD |
|
|
rs565422288 CA5019417 |
926 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
1 associated diseases with O95786
[MIM: 616298]: Singleton-Merten syndrome 2 (SGMRT2)
A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O95786
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O95786 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR14074 | HELICASE WITH DEATH DOMAIN-RELATED |
| PANTHER Subfamily | PTHR14074:SF16 | ANTIVIRAL INNATE IMMUNE RESPONSE RECEPTOR RIG-I |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| identical protein binding | Binding to an identical protein or proteins. |
| pattern recognition receptor activity | Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| zinc ion binding | Binding to a zinc ion (Zn). |
24 GO annotations of biological process
| Name | Definition |
|---|---|
| antiviral innate immune response | A defense response against viruses mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens. |
| cellular response to exogenous dsRNA | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus. |
| cytoplasmic pattern recognition receptor signaling pathway | The series of molecular signals initiated by the binding of a ligand from another organism to a cytosolic pattern recognition receptor (PRR). PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| detection of virus | The series of events in which a stimulus from a virus is received and converted into a molecular signal. |
| gene expression | The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| positive regulation of defense response to virus by host | Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of gene expression | Any process that increases 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). |
| positive regulation of granulocyte macrophage colony-stimulating factor production | Any process that activates or increases the frequency, rate, or extent of granulocyte macrophage colony-stimulating factor production. |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of interleukin-8 production | Any process that activates or increases the frequency, rate, or extent of interleukin-8 production. |
| positive regulation of myeloid dendritic cell cytokine production | Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production. |
| positive regulation of response to cytokine stimulus | Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| regulation of type III interferon production | Any process that modulates the frequency, rate, or extent of type III interferon production. Interferon lambda is the only member of the type III interferon found so far. |
| response to exogenous dsRNA | 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 exogenous double-stranded RNA stimulus. |
| response to virus | 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 a stimulus from a virus. |
| RIG-I signaling pathway | The series of molecular signals initiated by the binding ssRNA or dsRNA from another organism to the cytoplasmic pattern recognition receptor (PRR) RIG-1 (also known as DDX58). RIG-I detects RNA synthesized during viral replication or shed by non-viral pathogens, and triggers a signaling pathway to protect the host against infection, for example by inducing the expression of cytokines. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96C10 | DHX58 | ATP-dependent RNA helicase DHX58 | Homo sapiens (Human) | PR |
| Q9BYX4 | IFIH1 | Interferon-induced helicase C domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q9UPY3 | DICER1 | Endoribonuclease Dicer | Homo sapiens (Human) | EV |
| Q8R5F7 | Ifih1 | Interferon-induced helicase C domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q6Q899 | Ddx58 | Antiviral innate immune response receptor RIG-I | Mus musculus (Mouse) | SS |
| Q9GLV6 | DDX58 | Antiviral innate immune response receptor RIG-I | Sus scrofa (Pig) | SS |
| P34529 | dcr-1 | Endoribonuclease dcr-1 | Caenorhabditis elegans | PR |
| Q6TV19 | dicer1 | Endoribonuclease Dicer | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTEQRRSLQ | AFQDYIRKTL | DPTYILSYMA | PWFREEEVQY | IQAEKNNKGP | MEAATLFLKF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLELQEEGWF | RGFLDALDHA | GYSGLYEAIE | SWDFKKIEKL | EEYRLLLKRL | QPEFKTRIIP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TDIISDLSEC | LINQECEEIL | QICSTKGMMA | GAEKLVECLL | RSDKENWPKT | LKLALEKERN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KFSELWIVEK | GIKDVETEDL | EDKMETSDIQ | IFYQEDPECQ | NLSENSCPPS | EVSDTNLYSP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FKPRNYQLEL | ALPAMKGKNT | IICAPTGCGK | TFVSLLICEH | HLKKFPQGQK | GKVVFFANQI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVYEQQKSVF | SKYFERHGYR | VTGISGATAE | NVPVEQIVEN | NDIIILTPQI | LVNNLKKGTI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSLSIFTLMI | FDECHNTSKQ | HPYNMIMFNY | LDQKLGGSSG | PLPQVIGLTA | SVGVGDAKNT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DEALDYICKL | CASLDASVIA | TVKHNLEELE | QVVYKPQKFF | RKVESRISDK | FKYIIAQLMR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DTESLAKRIC | KDLENLSQIQ | NREFGTQKYE | QWIVTVQKAC | MVFQMPDKDE | ESRICKALFL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YTSHLRKYND | ALIISEHARM | KDALDYLKDF | FSNVRAAGFD | EIEQDLTQRF | EEKLQELESV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SRDPSNENPK | LEDLCFILQE | EYHLNPETIT | ILFVKTRALV | DALKNWIEGN | PKLSFLKPGI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LTGRGKTNQN | TGMTLPAQKC | ILDAFKASGD | HNILIATSVA | DEGIDIAQCN | LVILYEYVGN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VIKMIQTRGR | GRARGSKCFL | LTSNAGVIEK | EQINMYKEKM | MNDSILRLQT | WDEAVFREKI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LHIQTHEKFI | RDSQEKPKPV | PDKENKKLLC | RKCKALACYT | ADVRVIEECH | YTVLGDAFKE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| CFVSRPHPKP | KQFSSFEKRA | KIFCARQNCS | HDWGIHVKYK | TFEIPVIKIE | SFVVEDIATG |
| 910 | 920 | ||||
| VQTLYSKWKD | FHFEKIPFDP | AEMSK |