Q8NBP7
EV
Gene name |
PCSK9 (NARC1, PSEC0052) |
Protein name |
Proprotein convertase subtilisin/kexin type 9 |
Names |
Neural apoptosis-regulated convertase 1, NARC-1, Proprotein convertase 9, PC9, Subtilisin/kexin-like protease PC9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:255738 |
EC number |
|
Protein Class |
PEPTIDASE S8 (PTHR43806) |
Descriptions
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a crucial player in the regulation of plasma cholesterol homeostasis. It binds to low-density lipid receptor family members. At the cell surface, PCSK9 binds to the LDLR and is internalized as a complex with the LDLR. PCSK9 remains bound to the LDLR and prevents the LDLR from folding over itself to adopt a closed conformation. As a consequence, the LDLR fails to recycle back to the cell membrane. PCSK9 has a function to reduce the number of LDLRs and is a key regulator of plasma LDL cholesterol levels.
PCSK9 consists of 30aa signal peptide, a prodomain, a catalytic domain, and a His-rich and Cys-rich C-terminal domain. The prodomain is autocatalytically cleaved off from PCSK9 in ER. Even though it is the catalytic domain of PCSK9 that interacts with the LDLR at the cell surface, the structurally disordered N-terminal segment, rich in acidic residues, has a negative effect both on autocatalytic cleavage and on the activity of PCSK9 towards the LDLR. The inhibitory effect of this unstructured segment results from an interaction with basic residues of the catalytic domain of PCSK9.
Autoinhibitory domains (AIDs)
Target domain |
153-454 (Peptidase domain) |
Relief mechanism |
Cleavage |
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
44 structures for Q8NBP7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2P4E | X-ray | 198 A | A/P | 1-692 | PDB |
| 2PMW | X-ray | 230 A | PDB | ||
| 2QTW | X-ray | 190 A | PDB | ||
| 2W2M | X-ray | 240 A | PDB | ||
| 2W2N | X-ray | 230 A | PDB | ||
| 2W2O | X-ray | 262 A | PDB | ||
| 2W2P | X-ray | 262 A | PDB | ||
| 2W2Q | X-ray | 233 A | PDB | ||
| 2XTJ | X-ray | 270 A | PDB | ||
| 3BPS | X-ray | 241 A | PDB | ||
| 3GCW | X-ray | 270 A | PDB | ||
| 3GCX | X-ray | 270 A | PDB | ||
| 3H42 | X-ray | 230 A | PDB | ||
| 3M0C | X-ray | 701 A | PDB | ||
| 3P5B | X-ray | 330 A | PDB | ||
| 3P5C | X-ray | 420 A | PDB | ||
| 3SQO | X-ray | 270 A | PDB | ||
| 4K8R | X-ray | 322 A | PDB | ||
| 4NE9 | X-ray | 260 A | PDB | ||
| 4NMX | X-ray | 185 A | PDB | ||
| 4OV6 | X-ray | 269 A | PDB | ||
| 5OCA | X-ray | 230 A | PDB | ||
| 5VL7 | X-ray | 350 A | PDB | ||
| 5VLA | X-ray | 240 A | A | 1-452 | PDB |
| 5VLH | X-ray | 286 A | A | 1-452 | PDB |
| 5VLK | X-ray | 220 A | A | 1-452 | PDB |
| 5VLL | X-ray | 237 A | A | 1-452 | PDB |
| 5VLP | X-ray | 290 A | A | 1-692 | PDB |
| 6E4Y | X-ray | 224 A | P | 32-53 | PDB |
| 6E4Z | X-ray | 220 A | P | 32-53 | PDB |
| 6MV5 | X-ray | 210 A | P | 32-53 | PDB |
| 6OLZ | EM | 390 A | A | 9-34 | PDB |
| 6OM0 | EM | 310 A | y | 9-34 | PDB |
| 6OM7 | EM | 370 A | y | 9-34 | PDB |
| 6U26 | X-ray | 153 A | A/B | 31-692 | PDB |
| 6U2F | X-ray | 294 A | A | 1-692 | PDB |
| 6U2N | X-ray | 215 A | A/B | 31-692 | PDB |
| 6U2P | X-ray | 204 A | A/B | 31-692 | PDB |
| 6U36 | X-ray | 270 A | A/B | 31-692 | PDB |
| 6U38 | X-ray | 273 A | A/B | 31-692 | PDB |
| 6U3I | X-ray | 290 A | A | 1-692 | PDB |
| 6U3X | X-ray | 264 A | A/B | 31-692 | PDB |
| 7ANQ | X-ray | 220 A | A | 452-682 | PDB |
| AF-Q8NBP7-F1 | Predicted | AlphaFoldDB |
739 variants for Q8NBP7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1209186979 RCV001178472 |
1 | M>R | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA035116 RCV000771578 RCV000583160 rs186669805 |
4 | V>I | Familial hypercholesterolemia Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001179974 rs186669805 |
4 | V>L | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1644584130 RCV001188804 |
6 | S>F | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772311 CA340482623 rs1426361407 |
8 | R>W | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs968023760 CA22791800 RCV001182227 |
12 | P>T | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1644584325 RCV001182804 |
14 | P>S | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772354 rs1350443459 |
16 | L>V | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001186286 rs35574083 |
21 | L>missing | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000771579 rs35574083 |
22 | L>missing | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1644584917 RCV001190098 |
22 | L>P | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001185290 rs1453893690 |
23 | L>missing | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340482711 RCV001190241 rs1479030404 |
24 | G>S | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA340482722 RCV000508903 rs1553135400 |
26 | A>T | Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1413443246 RCV001183762 CA340482727 |
26 | A>V | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1187613601 RCV001178695 |
27 | G>A | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001179816 rs866597555 CA340482740 |
29 | R>C | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001097311 RCV001097310 rs866597555 |
29 | R>G | Hypercholesterolemia, autosomal dominant, 3 Hypobetalipoproteinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs958750957 RCV001187942 |
30 | A>E | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001190553 RCV001876229 rs917219621 CA22792017 |
33 | D>N | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000644532 rs371030381 CA034587 |
34 | E>K | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000417231 CA034785 rs764603059 RCV000775254 |
35 | D>Y | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001181023 rs781590513 CA035375 RCV001876014 |
39 | E>K | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA036614 rs747713772 RCV000775256 |
46 | R>C | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1372204035 CA340482852 RCV000508901 |
47 | S>C | Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1278890129 RCV001190831 |
48 | E>* | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1278890129 RCV000508707 CA340482854 RCV000644533 |
48 | E>K | Hypercholesterolemia, autosomal dominant, 3 Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001181024 RCV001100867 RCV000508806 CA038082 RCV001099061 rs11583680 RCV001251365 |
53 | A>G | Hypercholesterolemia, autosomal dominant, 3 Hypobetalipoproteinemia Familial hypercholesterolemia Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1644586405 RCV001187525 |
53 | A>V | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1644586582 RCV001187210 |
55 | A>V | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000775257 rs775521571 CA038279 RCV001856108 |
56 | P>S | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000660745 rs145886902 CA038607 RCV000771580 VAR_025451 |
57 | E>K | Familial hypercholesterolemia Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16610150 RCV000457149 rs1060500657 |
59 | G>R | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10588859 rs886039839 RCV000256310 |
62 | A>D | Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183195 rs867904088 |
63 | T>I | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1437993187 RCV001184703 CA340483237 |
66 | R>C | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs376619733 RCV001177649 |
67 | C>R | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA040390 RCV001100868 rs778639605 RCV001100869 |
68 | A>T | Hypercholesterolemia, autosomal dominant, 3 Hypobetalipoproteinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs569379713 RCV000508916 RCV000539746 CA040868 |
71 | P>L | Hypercholesterolemia, autosomal dominant, 3 Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA040881 RCV001181028 rs376944580 |
73 | R>S | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1644614862 RCV001248503 |
80 | V>missing | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA22795401 rs1048283339 RCV001190148 RCV002224015 |
81 | V>E | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000773893 rs1557499351 CA340483588 |
83 | K>E | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340483591 rs1553135930 RCV000508728 |
83 | K>T | Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340483594 rs1553135931 RCV000508832 |
84 | E>K | Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001181031 rs774506287 CA040989 |
85 | E>K | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1474074355 RCV001185907 |
87 | H>Q | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000417312 rs771978846 CA041054 |
89 | S>L | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000471381 VAR_058521 CA041144 rs151193009 RCV000584672 |
93 | R>C | Hypercholesterolemia, autosomal dominant, 3 Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001187134 CA041158 rs763855534 COSM3944187 |
93 | R>H | ovary Familial hypercholesterolemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1644615283 RCV001177818 |
94 | T>I | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001859152 CA041270 RCV001191370 rs140319509 |
97 | R>C | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000532903 rs376385276 RCV000771581 CA041309 |
97 | R>H | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA340483690 RCV001192064 rs1484569818 |
100 | A>G | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001191371 RCV001868181 RCV000660750 rs754143671 RCV000994007 CA041459 |
105 | R>Q | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA041436 rs747072726 RCV000775260 |
105 | R>W | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000417238 CA16602284 rs1057519692 |
108 | L>F | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519691 RCV000508743 CA340483733 |
108 | L>P | Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000417273 rs1057519691 RCV000587518 CA16602285 |
108 | L>R | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340483758 RCV001186191 rs1021372164 |
112 | L>R | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_058523 RCV000775261 rs775988212 CA041533 |
114 | V>A | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000771582 CA041567 rs761417131 |
117 | G>D | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA22795599 RCV001180538 rs72658891 |
118 | L>F | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs767164134 RCV001185720 CA041613 |
125 | K>N | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001101140 COSM1667565 CA041629 rs749928920 RCV001101141 |
126 | M>I | lung Hypercholesterolemia, autosomal dominant, 3 Hypobetalipoproteinemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs28942111 VAR_017199 CA023152 |
127 | S>R | FHCL3 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA041673 rs766314770 RCV001185721 RCV002068421 |
128 | G>S | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000706194 RCV000505210 CA340483865 VAR_058524 rs1553135971 |
129 | D>G | FHCL3 Hypercholesterolemia, autosomal dominant, 3 Hypercholesterolemia, familial, 1 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs745916051 RCV001185724 RCV001862920 CA042057 |
135 | L>S | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA042095 RCV000689522 rs780564433 |
138 | P>S | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769000401 CA042126 RCV001185726 |
141 | D>N | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1557500688 RCV000777156 CA340484521 |
141 | D>V | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001178747 rs1644636004 |
142 | Y>D | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001189880 rs776150122 CA042195 |
144 | E>K | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs978861923 RCV000755683 |
148 | S>missing | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs793888520 RCV001181330 RCV000172974 |
150 | F>missing | Familial hypercholesterolemia Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA042360 RCV000793123 rs775429340 RCV000771323 |
155 | P>L | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001183006 rs1644636495 |
156 | W>* | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340484721 RCV001258145 rs1557500768 RCV000785732 |
156 | W>* | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340484728 RCV000785733 rs1557500771 RCV001258146 |
156 | W>* | Hypercholesterolemia, autosomal dominant, 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775264 rs143117125 CA042414 VAR_058525 |
157 | N>K | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000781704 RCV001097396 rs367620267 RCV001097395 CA042436 RCV001182725 |
160 | R>Q | Hypercholesterolemia, autosomal dominant, 3 Hypobetalipoproteinemia Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs748403083 CA22797795 RCV001180540 |
161 | I>T | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001178995 rs1644636659 |
161 | I>V | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001176518 rs372165281 CA042504 RCV001340321 COSM1503099 |
165 | R>L | lung Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000660754 CA042484 rs372165281 |
165 | R>Q | Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs141593516 RCV001861722 RCV001191335 RCV000660753 CA042466 |
165 | R>W | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779384470 CA042555 RCV001175641 |
167 | R>Q | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001097398 CA042518 rs137878146 RCV000590020 RCV001097397 RCV001184748 |
167 | R>W | Hypercholesterolemia, autosomal dominant, 3 Hypobetalipoproteinemia Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770592607 CA340484831 RCV000505240 |
168 | A>E | Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770592607 RCV001185477 |
168 | A>G | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770592607 RCV001863008 RCV001189882 CA042580 |
168 | A>V | Hypercholesterolemia, autosomal dominant, 3 Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1644637183 RCV001177251 |
171 | Y>* | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000771583 VAR_067351 RCV000586165 rs533273863 CA042662 RCV000644534 |
174 | P>S | Hypercholesterolemia, autosomal dominant, 3 found in patients with familial hypercholesterolemia carrying a homozygous LDLR mutation; acts as a disease modifier resulting in a mild phenotype Familial hypercholesterolemia [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA042856 RCV001256822 RCV001185000 rs150898485 |
175 | D>N | Familial hypercholesterolemia Hypercholesterolemia, familial, 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs794728683 VAR_058526 CA023172 |
215 | R>H | FHCL3 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
CA023176 rs28942112 VAR_017200 |
216 | F>L | FHCL3; partial loss of cleavage by furin and PCSK5 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs970575319 CA22759959 VAR_058527 |
218 | R>S | FHCL3; complete loss of cleavage by furin and PCSK5; reduces glycosylation levels; no effect on protein sulfation and phosphorylation; no effect on protein sulfation but inhibits phosphorylation when associated with Y-374; highly reduces LDL uptake when associated with Y-374 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs370507566 VAR_058530 CA034909 |
357 | R>H | FHCL3 [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA10588875 VAR_058531 rs137852912 |
374 | D>H | FHCL3 [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs137852912 CA023106 VAR_058532 |
374 | D>Y | FHCL3; partial loss of cleavage by furin and PCSK5; no effect on protein sulfation but inhibits phosphorylation when associated with S-218; highly increases LDL uptake when associated with S-218 [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA036289 rs780948835 RCV001181293 |
435 | V>L | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000306200 RCV000403986 rs886046432 |
435 | V>WNWSPNWVE | Hypercholesterolemia, familial, 1 Familial hypobetalipoproteinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA036308 rs746134573 RCV001176337 |
437 | T>N | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001189822 rs1644730429 |
437 | T>S | Familial hypercholesterolemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769060209 CA22764252 RCV001190152 |
445 | P>H | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA036374 rs769060209 RCV001262586 COSM1287033 |
445 | P>L | Hypercholesterolemia, autosomal dominant, 3 autonomic_ganglia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA22764251 RCV001180541 rs761383351 |
445 | P>S | Familial hypercholesterolemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs374603772 VAR_058534 CA023126 |
496 | R>W | FHCL3 [UniProt] | Yes |
ClinGen UniProt ESP ExAC dbSNP gnomAD |
|
CA22791777 rs1018576699 |
2 | G>D | No |
ClinGen gnomAD |
|
|
rs966100677 CA340482597 |
3 | T>I | No |
ClinGen TOPMed |
|
|
CA22791778 rs966100677 |
3 | T>N | No |
ClinGen TOPMed |
|
|
CA035132 rs186669805 |
4 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772165799 CA040190 |
7 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA22791797 rs1021280547 |
8 | R>Q | No |
ClinGen Ensembl |
|
|
rs1168829435 CA340482631 |
9 | S>F | No |
ClinGen gnomAD |
|
|
rs1164872643 CA340482649 |
11 | W>* | No |
ClinGen gnomAD |
|
|
CA340482644 rs1458690210 |
11 | W>* | No |
ClinGen gnomAD |
|
|
rs760558712 CA041578 |
12 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA22791822 rs201184195 |
14 | P>L | No |
ClinGen Ensembl |
|
|
rs1322134519 CA340482682 |
18 | L>R | No |
ClinGen gnomAD |
|
|
rs1266907594 CA340482701 |
22 | L>F | No |
ClinGen gnomAD |
|
|
CA340482708 rs1557497443 |
23 | L>R | No |
ClinGen Ensembl |
|
|
rs1183261419 CA340482715 |
24 | G>A | No |
ClinGen gnomAD |
|
|
rs1247850588 CA340482721 |
25 | P>L | No |
ClinGen TOPMed |
|
|
CA044203 rs776276715 |
25 | P>S | No |
ClinGen ExAC |
|
|
rs1187613601 CA340482731 |
27 | G>D | No |
ClinGen gnomAD |
|
|
CA044814 rs547860327 |
28 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1160058809 CA340482741 |
29 | R>H | No |
ClinGen gnomAD |
|
|
rs866597555 CA22791971 |
29 | R>S | No |
ClinGen gnomAD |
|
|
rs958750957 CA22791974 |
30 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340482750 rs1304809659 |
31 | Q>E | No |
ClinGen gnomAD |
|
|
CA045184 rs564427867 |
32 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340482786 rs757753730 |
36 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256244941 CA340482787 |
36 | G>D | No |
ClinGen gnomAD |
|
|
CA034887 rs757753730 |
36 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360174848 CA340482792 |
37 | D>Y | No |
ClinGen TOPMed |
|
|
CA22792057 rs971757977 |
38 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA340482812 rs1416330878 |
40 | E>K | No |
ClinGen TOPMed |
|
|
CA036030 rs550263135 |
41 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA035959 rs770290145 |
41 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA22792082 rs773660398 |
44 | A>S | No |
ClinGen Ensembl |
|
|
rs773660398 CA22792080 |
44 | A>T | No |
ClinGen Ensembl |
|
|
rs1360032511 CA340482840 |
45 | L>S | No |
ClinGen gnomAD |
|
|
rs11591147 CA22792102 |
46 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA023110 rs11591147 VAR_017197 |
46 | R>L | associated with lower plasma levels of low-density lipoprotein cholesterol; reduced phosphorylation at Ser-47 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1371023114 CA340482858 |
48 | E>G | No |
ClinGen gnomAD |
|
|
CA037132 rs747002272 |
49 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA340482878 rs1346757467 |
51 | G>S | No |
ClinGen gnomAD |
|
|
rs1007223180 CA22792149 |
51 | G>V | No |
ClinGen Ensembl |
|
|
rs1488157123 CA340482885 |
52 | L>P | No |
ClinGen TOPMed |
|
|
CA340482887 rs1259284427 |
53 | A>T | No |
ClinGen TOPMed |
|
|
rs11583680 VAR_017198 CA023136 |
53 | A>V | associated with reduced phosphorylation at Ser-47 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1232867178 CA340482894 |
54 | E>G | No |
ClinGen gnomAD |
|
|
CA038158 rs770080583 |
54 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1193030359 CA340483118 |
56 | P>L | No |
ClinGen gnomAD |
|
|
rs145886902 CA22792216 |
57 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340483125 rs1172044227 |
57 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1392185965 CA340483131 |
57 | E>D | No |
ClinGen gnomAD |
|
|
rs1644586889 RCV001194057 |
58 | H>R | No |
ClinVar dbSNP |
|
|
rs1430182763 CA340483136 |
58 | H>Y | No |
ClinGen gnomAD |
|
|
CA340483155 rs1352763628 |
59 | G>E | No |
ClinGen gnomAD |
|
|
CA039076 rs373512612 |
62 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22792245 rs867904088 |
63 | T>N | No |
ClinGen Ensembl |
|
|
CA340483238 rs1299375629 |
66 | R>H | No |
ClinGen gnomAD |
|
|
CA22792256 rs376619733 |
67 | C>G | No |
ClinGen Ensembl |
|
|
CA340483243 rs1342412675 |
67 | C>Y | No |
ClinGen gnomAD |
|
|
rs763801981 CA040855 |
70 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA22795354 rs938610519 |
70 | D>H | No |
ClinGen Ensembl |
|
|
rs151095149 CA22795365 |
72 | W>G | No |
ClinGen ESP |
|
|
CA340483528 rs1338503208 |
73 | R>W | No |
ClinGen TOPMed |
|
|
CA340483537 rs1252922051 |
74 | L>W | No |
ClinGen gnomAD |
|
|
rs756060557 VAR_058520 CA040921 |
77 | T>I | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs1307552863 CA340483562 |
78 | Y>C | No |
ClinGen TOPMed |
|
|
CA340483566 rs749049179 |
79 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749049179 CA040948 COSM910977 |
79 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340483609 rs1570293887 |
86 | T>P | No |
ClinGen Ensembl |
|
|
rs369498204 CA041010 |
87 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557499381 CA340483622 |
88 | L>F | No |
ClinGen Ensembl |
|
|
rs771978846 CA041031 |
89 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340483642 rs1469195933 |
91 | S>A | No |
ClinGen gnomAD |
|
|
CA041111 rs766880067 |
92 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1375247064 CA340483657 |
94 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA041196 rs751193190 |
95 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA041227 rs185392267 |
96 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA041237 COSM910979 rs766999045 |
96 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340483671 rs766999045 |
96 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA041319 rs376385276 |
97 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA041257 rs140319509 |
97 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340483680 rs1235327649 |
99 | Q>* | No |
ClinGen gnomAD |
|
|
rs564681731 CA041337 |
100 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1206960308 CA340483706 |
103 | A>T | No |
ClinGen gnomAD |
|
|
rs369067856 CA041396 |
104 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA041408 rs72658890 |
104 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs72658890 CA041422 |
104 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369067856 CA22795519 |
104 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA041468 rs370751343 |
106 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340483750 rs1433310399 |
111 | I>V | No |
ClinGen gnomAD |
|
|
CA22795547 rs1021372164 |
112 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1351049773 CA340483778 |
115 | F>L | No |
ClinGen Ensembl |
|
|
rs1156455514 CA340483788 |
117 | G>S | No |
ClinGen TOPMed |
|
|
rs1441639847 CA340483802 |
119 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1302968528 CA340483816 |
122 | F>I | No |
ClinGen gnomAD |
|
|
CA340483840 rs1345977085 |
125 | K>M | No |
ClinGen gnomAD |
|
|
rs1345977085 CA340483839 |
125 | K>R | No |
ClinGen gnomAD |
|
|
rs749928920 CA340483848 COSM1667565 |
126 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340483845 rs1251643486 |
126 | M>K | No |
ClinGen gnomAD |
|
|
CA041662 rs760180148 |
127 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA041734 rs778738291 |
129 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752506225 CA041751 |
131 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs781466793 CA042040 |
134 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340484498 rs1416248785 |
139 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA023156 rs67608943 |
142 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22797724 rs907319017 |
142 | Y>C | No |
ClinGen Ensembl |
|
|
CA042159 rs746734908 |
143 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA340484567 rs1413865935 |
145 | E>K | No |
ClinGen gnomAD |
|
|
CA340484618 rs1557500722 |
148 | S>F | No |
ClinGen Ensembl |
|
|
rs765172295 CA042344 |
151 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA22797764 rs1026746691 |
151 | A>V | No |
ClinGen Ensembl |
|
|
rs1305635836 CA340484675 |
152 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1314816727 CA340484694 |
154 | I>V | No |
ClinGen gnomAD |
|
|
rs1031725741 CA22797768 |
156 | W>R | No |
ClinGen TOPMed |
|
|
rs372600893 CA042394 |
157 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757588904 CA042424 |
159 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs200505188 CA22797776 |
160 | R>W | No |
ClinGen TOPMed |
|
|
rs1177899447 CA340484793 |
162 | T>I | No |
ClinGen gnomAD |
|
|
COSM109449 CA042452 rs138876953 |
164 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA340484826 rs137878146 COSM3360962 |
167 | R>G | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA22797828 rs779384470 |
167 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356251183 CA340484828 |
168 | A>T | No |
ClinGen gnomAD |
|
|
CA22797857 rs267598660 |
169 | D>N | No |
ClinGen Ensembl |
|
|
rs1442384172 CA340484860 |
172 | Q>R | No |
ClinGen gnomAD |
|
|
rs1346692733 RCV000994008 CA340484866 |
173 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1156464206 CA340471139 |
176 | G>E | No |
ClinGen gnomAD |
|
|
CA043178 rs141135099 |
176 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778157885 CA340471143 |
177 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA043207 rs368899514 |
177 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778157885 CA043192 |
177 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340471153 rs755818478 |
178 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755818478 CA043230 |
178 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438653547 CA340472972 |
179 | L>V | No |
ClinGen TOPMed |
|
|
CA340472995 rs1394782989 |
181 | E>K | No |
ClinGen gnomAD |
|
|
rs1246333791 CA340473009 |
182 | V>M | No |
ClinGen Ensembl |
|
|
rs1336428560 CA340473036 |
183 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA043274 rs748846783 |
185 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307418122 CA340473112 |
186 | D>H | No |
ClinGen gnomAD |
|
|
CA340473191 rs1557503455 |
190 | Q>* | No |
ClinGen Ensembl |
|
|
CA043332 rs748155397 |
194 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200027662 CA043310 |
194 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762910129 CA340473308 |
196 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA340473295 rs1353627495 |
196 | I>V | No |
ClinGen TOPMed |
|
|
CA043349 rs772114791 |
197 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22759834 rs1053394659 |
198 | G>D | No |
ClinGen Ensembl |
|
|
rs764087262 CA043362 |
198 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA340473338 rs1163528620 |
199 | R>G | No |
ClinGen TOPMed |
|
|
rs1254535640 CA340473392 |
201 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1454441877 CA340473408 |
202 | V>I | No |
ClinGen gnomAD |
|
|
CA340473448 rs1469436928 |
204 | D>G | No |
ClinGen TOPMed |
|
|
CA023168 rs793888521 |
204 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs753857795 CA043444 |
206 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340473517 rs1453478502 |
207 | N>S | No |
ClinGen TOPMed |
|
|
rs763487412 CA340473524 |
208 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA043465 rs763487412 |
208 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA340473541 rs1570301185 |
209 | P>L | No |
ClinGen Ensembl |
|
|
CA340473536 rs1373540306 |
209 | P>S | No |
ClinGen gnomAD |
|
|
CA340473544 rs1302868036 |
210 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1302868036 CA340473545 |
210 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1229273371 CA340473560 |
211 | E>* | No |
ClinGen gnomAD |
|
|
rs751939969 CA043508 |
212 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs267598661 CA043535 |
213 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570301216 CA340473594 |
214 | T>P | No |
ClinGen Ensembl |
|
|
rs753505066 CA043549 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340473609 rs794728683 |
215 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340473642 rs1278078294 |
218 | R>G | No |
ClinGen TOPMed |
|
|
rs778617372 CA340473654 |
219 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs778617372 CA043576 VAR_058528 |
219 | Q>E | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs1431852989 CA340473663 |
219 | Q>H | No |
ClinGen gnomAD |
|
|
CA043945 rs768795323 |
220 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353466127 CA340473740 |
221 | S>G | No |
ClinGen gnomAD |
|
|
CA340473759 rs1570301557 |
222 | K>R | No |
ClinGen Ensembl |
|
|
CA043968 rs774478819 |
225 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA043993 rs762279506 |
226 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1181413533 CA340473826 |
227 | G>S | No |
ClinGen gnomAD |
|
|
CA340473843 rs1254181849 |
228 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA22760316 rs1004968088 |
229 | H>R | No |
ClinGen Ensembl |
|
|
CA044010 COSM1320980 rs150169598 |
233 | V>L | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs150169598 CA340473887 |
233 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340473920 rs7552471 |
235 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149489325 CA044056 |
236 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758109994 CA044087 |
237 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA044076 rs148195424 VAR_025452 |
237 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1557503867 CA340473949 |
238 | D>G | No |
ClinGen Ensembl |
|
|
rs1557503867 CA340473951 |
238 | D>V | No |
ClinGen Ensembl |
|
|
rs751048732 CA044123 |
240 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147478188 CA044168 |
241 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340473989 rs1238510123 |
242 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs374014696 CA044183 |
242 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370501906 CA22760435 |
244 | G>D | No |
ClinGen gnomAD |
|
|
CA340474018 rs1210030445 |
245 | A>T | No |
ClinGen gnomAD |
|
|
CA340474047 rs1557503904 |
247 | M>L | No |
ClinGen Ensembl |
|
|
CA044230 rs755836529 |
247 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779824389 CA044240 |
248 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA044252 rs749573024 |
248 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA340474064 rs749573024 |
248 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA044267 rs768846693 |
249 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM302887 rs778900671 CA044283 |
251 | R>C | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA044308 rs376945520 |
251 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340474096 rs149139428 |
252 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149139428 CA871479 |
252 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs72646508 VAR_025453 CA044357 |
253 | L>F | associated with lower plasma levels of low-density lipoprotein cholesterol [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs771479424 CA340474173 |
258 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771479424 CA044388 |
258 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340474185 rs1462085652 |
259 | G>S | No |
ClinGen gnomAD |
|
|
CA044403 rs777111934 |
260 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777111934 CA044416 |
260 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA044440 rs200146448 |
263 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201789841 CA044473 |
264 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA044459 rs201789841 |
264 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201789841 CA340474242 |
264 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340474243 rs1570301738 |
265 | L>F | No |
ClinGen Ensembl |
|
|
CA044713 rs760649431 |
268 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs753657596 CA044744 |
271 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1486032110 CA340474306 |
272 | R>Q | No |
ClinGen gnomAD |
|
|
rs754744118 CA044761 |
272 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453038620 CA340474333 |
273 | K>N | No |
ClinGen TOPMed |
|
|
CA340474344 rs1260868962 |
274 | S>N | No |
ClinGen gnomAD |
|
|
CA340474376 rs1570304839 |
276 | L>R | No |
ClinGen Ensembl |
|
|
rs1570304864 CA340474390 |
277 | V>A | No |
ClinGen Ensembl |
|
|
CA044790 rs562011178 |
277 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1412701238 CA340474407 |
278 | Q>L | No |
ClinGen gnomAD |
|
|
CA340474419 rs72646509 |
279 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22762687 rs1049662014 |
279 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs72646509 CA044825 |
279 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1000735676 CA22762688 |
280 | V>A | No |
ClinGen gnomAD |
|
|
rs1301670289 CA340474447 |
281 | G>A | No |
ClinGen gnomAD |
|
|
rs758526036 CA044840 |
282 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA044851 rs72646510 |
283 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22762690 rs894672817 |
285 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA044863 rs370748390 |
288 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284837929 CA340474512 |
288 | P>T | No |
ClinGen gnomAD |
|
|
rs1354172136 CA340474545 |
290 | A>E | No |
ClinGen gnomAD |
|
|
rs1354172136 CA340474548 |
290 | A>V | No |
ClinGen gnomAD |
|
|
rs1261031081 CA340474565 |
291 | G>D | No |
ClinGen gnomAD |
|
|
CA044895 rs781740443 |
291 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1486606144 CA340474583 |
292 | G>E | No |
ClinGen gnomAD |
|
|
CA340474586 rs1486606144 |
292 | G>V | No |
ClinGen gnomAD |
|
|
CA340474614 rs1188101054 |
294 | S>G | No |
ClinGen gnomAD |
|
|
CA044907 rs746219017 |
294 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA340474633 rs770256556 |
295 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA044946 rs775707869 |
295 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA044929 rs770256556 |
295 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401857104 CA340474656 |
296 | V>A | No |
ClinGen TOPMed |
|
|
CA044969 rs771594920 |
296 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA044979 rs373664939 |
297 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
rs575003139 CA044991 |
298 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1359249683 CA340474699 |
299 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1437137125 CA340474717 |
300 | A>S | No |
ClinGen gnomAD |
|
|
CA340474712 rs1437137125 |
300 | A>T | No |
ClinGen gnomAD |
|
|
CA045026 rs776484622 |
301 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA045016 rs766318805 |
301 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA045039 rs759388119 |
302 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281537073 CA340474794 |
303 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1377882142 CA340474808 |
304 | L>P | No |
ClinGen gnomAD |
|
|
rs1239236028 CA340474831 |
305 | A>V | No |
ClinGen gnomAD |
|
|
CA340474930 rs1200999906 |
310 | V>M | No |
ClinGen gnomAD |
|
|
CA340474991 rs1205972630 |
313 | T>A | No |
ClinGen gnomAD |
|
|
rs865914100 CA22762762 |
314 | A>T | No |
ClinGen Ensembl |
|
|
CA22762765 rs971741435 |
314 | A>V | No |
ClinGen gnomAD |
|
|
CA045157 rs554488891 |
316 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs554488891 CA045139 |
316 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781413796 CA045195 |
318 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA045207 rs746442570 |
319 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910368517 CA22762783 |
320 | D>E | No |
ClinGen gnomAD |
|
|
CA045234 rs780509319 |
321 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA340475156 rs1446332100 |
322 | A>D | No |
ClinGen gnomAD |
|
|
rs1307302473 CA340475174 |
323 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340475173 rs1307302473 |
323 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1233679277 CA340475192 |
324 | L>F | No |
ClinGen gnomAD |
|
|
rs1233679277 CA340475188 |
324 | L>I | No |
ClinGen gnomAD |
|
|
rs771735364 CA045268 |
326 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA22762795 rs771735364 |
326 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs867916076 CA22762802 |
327 | P>Q | No |
ClinGen gnomAD |
|
|
CA340475250 rs1196402654 |
328 | A>V | No |
ClinGen gnomAD |
|
|
rs868240958 CA22762805 |
330 | A>D | No |
ClinGen Ensembl |
|
|
CA340475267 rs1254434427 |
330 | A>T | No |
ClinGen gnomAD |
|
|
CA340475302 rs1272068040 |
332 | E>K | No |
ClinGen TOPMed |
|
|
rs755268843 CA045650 |
333 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA034576 rs779246166 |
335 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA22763728 rs865848494 |
337 | G>R | No |
ClinGen gnomAD |
|
|
rs1314144363 CA340476337 |
339 | T>A | No |
ClinGen Ensembl |
|
|
CA034635 rs780783084 |
339 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA034648 rs745314022 |
340 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs509504 CA340476380 |
342 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs509504 CA340476377 |
342 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA034719 rs768627415 |
343 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs762974799 CA034704 |
343 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762974799 CA340476381 |
343 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs72646513 CA034732 |
344 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA22763770 rs72646513 |
344 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs762169784 CA034748 |
345 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340476405 rs1187133845 |
345 | P>S | No |
ClinGen gnomAD |
|
|
CA340476413 rs1212305277 |
346 | V>M | No |
ClinGen Ensembl |
|
|
rs750542221 CA034811 |
348 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340476454 rs1459602819 |
350 | T>A | No |
ClinGen gnomAD |
|
|
CA340476481 rs1417795413 |
352 | G>E | No |
ClinGen gnomAD |
|
|
CA034825 rs760614435 |
352 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340476503 rs1553137543 |
354 | N>I | No |
ClinGen Ensembl |
|
|
CA034856 rs148562777 |
357 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370507566 CA034924 |
357 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753017904 CA034965 |
358 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1242843864 CA340476586 |
361 | L>F | No |
ClinGen gnomAD |
|
|
CA340476588 rs1390475114 |
361 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA340476623 rs1353354672 |
364 | P>R | No |
ClinGen gnomAD |
|
|
CA340476616 rs1557506300 |
364 | P>T | No |
ClinGen Ensembl |
|
|
CA035095 rs141867978 |
367 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA035104 rs141867978 |
367 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749283996 CA035145 |
368 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA340476682 rs1441761388 |
369 | I>F | No |
ClinGen gnomAD |
|
|
rs1338429889 CA340476688 |
369 | I>T | No |
ClinGen TOPMed |
|
|
rs1179427266 CA340476703 |
371 | A>S | No |
ClinGen gnomAD |
|
|
rs768686622 CA035165 |
373 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs137852912 CA035223 |
374 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760947578 CA340476781 |
377 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773242558 CA035261 |
377 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA035277 rs760947578 |
377 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553137557 CA658683161 |
378 | C>* | No |
ClinGen Ensembl |
|
|
CA035306 rs776752113 |
378 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776752113 CA035319 |
378 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766429500 CA035292 |
378 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA035356 rs773363923 |
382 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942292612 CA22763882 |
383 | S>N | No |
ClinGen TOPMed |
|
|
rs1334564489 CA340476896 |
387 | Q>* | No |
ClinGen gnomAD |
|
|
rs1304098322 CA340476923 |
389 | A>V | No |
ClinGen gnomAD |
|
|
rs1313288327 CA340476938 |
390 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs146471967 CA035384 VAR_025454 |
391 | H>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA22763890 rs1044915576 |
391 | H>R | No |
ClinGen Ensembl |
|
|
rs1254346075 CA340476957 |
392 | V>L | No |
ClinGen gnomAD |
|
|
rs1254346075 CA340476953 |
392 | V>M | No |
ClinGen gnomAD |
|
|
CA340476974 rs1459116260 |
393 | A>V | No |
ClinGen gnomAD |
|
|
CA035615 rs368257906 VAR_067282 |
394 | G>S | found in a patient associated with autosomal dominant hypercholesterolemia; unknown pathological significance [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs376066497 CA035776 |
394 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA035788 rs766010409 |
398 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359876864 CA340477091 |
399 | M>I | No |
ClinGen gnomAD |
|
|
CA340477089 rs1268407946 |
399 | M>T | No |
ClinGen TOPMed |
|
|
CA035802 rs533612423 |
402 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778562344 CA035851 |
403 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA035872 rs778562344 |
403 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186821394 CA340477118 |
404 | P>A | No |
ClinGen gnomAD |
|
|
COSM1343562 rs140072072 CA035888 |
404 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA035924 rs746767777 |
406 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366819516 CA340477138 |
407 | T>I | No |
ClinGen TOPMed |
|
|
rs771069624 CA035936 |
407 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1291652605 CA340477139 |
408 | L>M | No |
ClinGen TOPMed |
|
|
CA22764195 rs570372306 |
408 | L>Q | No |
ClinGen 1000Genomes |
|
|
CA036006 rs746085210 |
410 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA035987 rs746085210 |
410 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775522541 CA036049 |
412 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA340477178 rs1420843927 |
414 | R>K | No |
ClinGen gnomAD |
|
|
rs1343534206 CA340477193 |
416 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
VAR_025455 rs143275858 CA036101 |
417 | H>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA036077 rs769163891 |
417 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1178332923 CA340477202 |
418 | F>L | No |
ClinGen TOPMed |
|
|
CA340477209 rs1378713223 |
418 | F>L | No |
ClinGen gnomAD |
|
|
CA036124 rs762182618 |
419 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA036141 rs766136945 |
422 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555751342 CA036156 |
423 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA036186 rs759250273 |
424 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs28362261 CA036204 VAR_021337 |
425 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1236599922 CA340477332 |
426 | E>D | No |
ClinGen gnomAD |
|
|
rs1207777134 CA340477314 |
426 | E>K | No |
ClinGen TOPMed |
|
|
CA036214 rs752222287 |
427 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA036226 rs111427099 |
429 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340477423 rs1570307188 |
432 | D>A | No |
ClinGen Ensembl |
|
|
CA036252 rs72646515 |
432 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1416309628 CA340477460 |
434 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757143429 CA036270 |
434 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377389702 CA340477514 |
438 | P>L | No |
ClinGen gnomAD |
|
|
CA340477554 rs1277776494 |
442 | A>T | No |
ClinGen gnomAD |
|
|
rs28362263 CA340477566 |
443 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_021338 CA036349 rs28362263 |
443 | A>T | associated with lower plasma levels of low-density lipoprotein cholesterol; more extensive cleavage by furin and PCSK5 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1570307253 CA340477579 |
444 | L>P | No |
ClinGen Ensembl |
|
|
rs769060209 CA22764265 |
445 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340477583 rs761383351 |
445 | P>T | No |
ClinGen gnomAD |
|
|
rs1458523433 CA340477598 |
446 | P>L | No |
ClinGen gnomAD |
|
|
CA036390 rs774858487 |
446 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762226571 CA036399 |
448 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1479295060 CA340477633 |
449 | H>L | No |
ClinGen gnomAD |
|
|
CA340477644 rs1173600933 |
450 | G>E | No |
ClinGen gnomAD |
|
|
rs1451869477 CA340477652 |
451 | A>E | No |
ClinGen TOPMed |
|
|
CA22764276 rs983143621 |
451 | A>T | No |
ClinGen gnomAD |
|
|
rs1210806532 CA340478445 |
452 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA340477662 rs1173147037 |
452 | G>R | No |
ClinGen gnomAD |
|
|
CA22764453 rs962536642 |
454 | Q>H | No |
ClinGen Ensembl |
|
|
CA340478574 rs771108863 |
457 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA036670 rs780193533 |
460 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324728334 CA340478650 |
461 | W>R | No |
ClinGen TOPMed |
|
|
CA036722 rs746115963 |
462 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340478754 rs1302398752 |
464 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340478770 rs778849441 |
465 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16609712 rs778849441 |
465 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA036756 rs778849441 |
465 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22764497 rs72646517 |
466 | G>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA340478777 rs1398024030 |
466 | G>R | No |
ClinGen gnomAD |
|
|
rs772677312 CA036796 |
467 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340478803 rs1383646766 |
467 | P>R | No |
ClinGen gnomAD |
|
|
rs1553137693 CA340478812 |
468 | T>A | No |
ClinGen Ensembl |
|
|
rs1478694424 CA340478821 |
468 | T>I | No |
ClinGen TOPMed |
|
|
CA340478828 rs1340689002 |
469 | R>Q | No |
ClinGen gnomAD |
|
|
rs141502002 VAR_025456 COSM910985 CA023118 |
469 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769573992 CA036838 |
470 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA340478861 rs1553137699 |
471 | A>S | No |
ClinGen Ensembl |
|
|
rs1219469384 CA340478874 |
472 | T>A | No |
ClinGen gnomAD |
|
|
VAR_021339 CA023122 rs562556 |
474 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM681703 CA036937 rs773699134 |
475 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs761767572 CA036951 |
476 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376388695 COSM329519 CA036969 |
476 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA037005 COSM1219888 rs375582388 |
478 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1430200092 CA340478989 |
478 | A>V | No |
ClinGen Ensembl |
|
|
rs141995194 VAR_025457 CA037027 |
482 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1570307690 CA340479069 |
483 | L>V | No |
ClinGen Ensembl |
|
|
CA22764607 rs142802279 |
485 | S>N | No |
ClinGen ESP |
|
|
CA22764611 rs148683687 |
485 | S>R | No |
ClinGen ESP |
|
|
rs1038851402 CA22764617 |
487 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1402213136 CA340479163 |
488 | S>T | No |
ClinGen gnomAD |
|
|
CA340479205 rs1334235967 |
490 | S>F | No |
ClinGen gnomAD |
|
|
rs1436184137 CA340479198 |
490 | S>P | No |
ClinGen TOPMed |
|
|
CA22764625 rs995013832 |
491 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA037109 rs537114569 |
492 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340479278 rs1553137710 |
494 | K>E | No |
ClinGen Ensembl |
|
|
rs1557507226 CA340479284 |
494 | K>R | No |
ClinGen Ensembl |
|
|
rs370574590 CA037181 |
495 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370574590 CA037160 |
495 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA037143 rs758999339 COSM1579736 |
495 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs139669564 CA037217 |
496 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1175902935 CA340479324 |
497 | G>D | No |
ClinGen gnomAD |
|
|
CA340479333 rs1570307758 |
498 | E>G | No |
ClinGen Ensembl |
|
|
CA037249 COSM192035 rs145468572 |
498 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA037281 rs201395805 |
499 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA037299 COSM1219887 rs143394031 |
499 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA037333 rs143394031 |
499 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA037321 rs143394031 |
499 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1210875653 CA340479349 |
500 | M>V | No |
ClinGen TOPMed |
|
|
rs1570307780 CA340479373 |
501 | E>G | No |
ClinGen Ensembl |
|
|
rs1377720240 CA340479366 |
501 | E>K | No |
ClinGen gnomAD |
|
|
rs892754947 CA22765449 |
502 | A>T | No |
ClinGen TOPMed |
|
|
CA340479580 rs1427178819 |
504 | G>E | No |
ClinGen gnomAD |
|
|
CA340479572 rs374455190 |
504 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374455190 CA037876 |
504 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366513982 CA340479584 |
505 | G>S | No |
ClinGen gnomAD |
|
|
CA340479620 rs903946804 |
506 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs903946804 CA340479618 |
506 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340479646 rs1362591620 |
508 | V>A | No |
ClinGen gnomAD |
|
|
CA037911 rs757804293 |
510 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751649334 CA037891 |
510 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs866944660 CA340479687 |
511 | A>P | No |
ClinGen gnomAD |
|
|
rs866944660 CA22765473 |
511 | A>T | No |
ClinGen gnomAD |
|
|
CA10654837 rs1057516136 |
513 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1243707941 CA340479728 |
513 | N>S | No |
ClinGen gnomAD |
|
|
rs1447116791 CA340479739 |
514 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1356131564 CA340479770 VAR_025458 |
515 | F>L | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs891322948 CA340479779 |
516 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA22765521 rs891322948 |
516 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1484036219 CA340479787 |
517 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340479792 rs1182044412 |
517 | G>V | No |
ClinGen gnomAD |
|
|
rs1014227422 CA22765534 |
518 | E>V | No |
ClinGen Ensembl |
|
|
rs756504747 CA037961 |
519 | G>D | No |
ClinGen ExAC |
|
|
CA038044 VAR_058535 rs777300852 |
522 | A>T | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA340479859 rs1317742736 |
523 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1343443906 CA340479864 |
523 | I>T | No |
ClinGen gnomAD |
|
|
rs1317742736 CA340479857 |
523 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA22765566 rs746457760 |
524 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA038072 rs746457760 |
524 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs140286279 CA22765571 |
525 | R>T | No |
ClinGen 1000Genomes |
|
|
rs899919751 CA22765579 |
530 | P>H | No |
ClinGen TOPMed |
|
|
CA340479924 rs1570308628 |
530 | P>T | No |
ClinGen Ensembl |
|
|
CA22765590 rs920130560 |
534 | C>Y | No |
ClinGen Ensembl |
|
|
CA038148 rs776367625 |
536 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340479980 rs1223085316 |
538 | T>A | No |
ClinGen gnomAD |
|
|
rs369996097 CA038172 |
541 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242110421 CA340480018 |
544 | A>D | No |
ClinGen gnomAD |
|
|
CA22765607 rs1026987232 |
544 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340480020 rs1242110421 |
544 | A>V | No |
ClinGen gnomAD |
|
|
CA340480037 rs1461201950 |
546 | M>I | No |
ClinGen gnomAD |
|
|
CA038188 rs769522231 |
547 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA038205 rs368156218 |
548 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1570308686 CA340480043 |
548 | T>P | No |
ClinGen Ensembl |
|
|
rs763298843 CA038220 |
549 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs111400659 CA038232 |
549 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340480052 rs1405910641 |
550 | V>I | No |
ClinGen gnomAD |
|
|
rs1287224147 CA340480061 |
551 | H>L | No |
ClinGen gnomAD |
|
|
rs1416217632 CA340480069 |
552 | C>Y | No |
ClinGen gnomAD |
|
|
CA038250 VAR_021340 rs28362270 |
553 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1405615512 CA340480076 |
553 | H>Y | No |
ClinGen gnomAD |
|
|
VAR_025459 rs149311926 CA038270 |
554 | Q>E | increases interaction with ANXA2 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs149311926 CA22765647 |
554 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340480103 rs1336057350 |
557 | H>Y | No |
ClinGen gnomAD |
|
|
CA22765665 rs981267830 |
558 | V>G | No |
ClinGen TOPMed |
|
|
CA340480109 rs1277680499 |
558 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA038295 rs767632479 |
560 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340480124 rs767632479 |
560 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340480125 rs1262186256 |
561 | G>S | No |
ClinGen gnomAD |
|
|
CA038542 rs767544859 |
563 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA340480159 rs1263043577 |
564 | S>A | No |
ClinGen TOPMed |
|
|
CA340480171 rs1363218878 |
565 | H>Q | No |
ClinGen gnomAD |
|
|
rs111563724 CA038591 |
566 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10610501 rs886046434 |
566 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1570310024 CA340480192 |
568 | V>G | No |
ClinGen Ensembl |
|
|
rs761118507 CA038619 |
569 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340480220 rs1570310033 |
573 | T>P | No |
ClinGen Ensembl |
|
|
CA038642 rs72646525 |
576 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361987459 CA340480244 |
576 | P>S | No |
ClinGen gnomAD |
|
|
rs1218659702 CA340480249 |
577 | P>S | No |
ClinGen TOPMed |
|
|
CA038683 rs765583923 |
578 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751217094 CA038697 |
579 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776682841 CA038714 |
580 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs373323910 CA038733 |
582 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA038743 rs745333538 |
582 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA038753 rs756133708 |
583 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA22767021 rs146035580 |
586 | N>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA038781 rs780068262 |
587 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1404110591 CA340480311 |
588 | C>R | No |
ClinGen TOPMed |
|
|
CA038828 rs372586224 |
589 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383528401 CA340480323 |
590 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs529912877 CA340480334 |
591 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529912877 CA038854 |
591 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774174877 CA038840 |
591 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1639923 CA22767041 rs578162610 |
594 | A>D | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA22767055 rs938981232 |
596 | I>T | No |
ClinGen TOPMed |
|
|
CA038919 COSM910986 rs367606156 |
598 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA340480391 rs1228532297 |
600 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA22767067 rs1012875803 |
602 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340480411 rs1245161747 |
603 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340480416 rs1461652205 |
603 | A>V | No |
ClinGen gnomAD |
|
|
CA038957 rs760011800 |
605 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA340480424 rs1256146794 |
605 | G>R | No |
ClinGen TOPMed |
|
|
CA340480429 rs1159691514 |
606 | L>V | No |
ClinGen gnomAD |
|
|
rs761390546 CA340480477 |
612 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA038985 rs753062243 |
612 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1178229280 CA340480471 |
612 | E>K | No |
ClinGen gnomAD |
|
|
rs1229958448 CA340480481 |
613 | H>P | No |
ClinGen TOPMed |
|
|
rs749906108 CA039017 |
615 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755750316 CA039055 VAR_058536 |
616 | P>L | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA039033 rs755750316 |
616 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM88103 CA039099 rs754936553 |
617 | A>D | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA340480504 rs1335284822 COSM1687730 |
617 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1324548567 CA340480510 |
618 | P>H | No |
ClinGen gnomAD |
|
|
rs1324548567 CA340480512 |
618 | P>L | No |
ClinGen gnomAD |
|
|
rs142118418 CA039150 |
619 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340480516 rs28362277 |
619 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA039163 VAR_021341 rs28362277 |
619 | Q>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1031712142 CA22767187 |
620 | E>G | No |
ClinGen gnomAD |
|
|
CA16610214 rs1060500656 |
620 | E>K | No |
ClinGen Ensembl |
|
|
rs769112641 CA039476 |
623 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs192854667 CA22768184 |
623 | T>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs192854667 CA22768183 |
623 | T>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs760437822 CA039511 |
624 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766081343 CA340480567 |
626 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs766081343 CA039537 |
626 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774385716 CA039569 |
627 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1687731 rs764653616 CA039595 |
628 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1261496250 CA340480590 |
629 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1448019514 CA340480592 |
630 | W>R | No |
ClinGen gnomAD |
|
|
rs1002152564 CA22768216 |
633 | T>A | No |
ClinGen TOPMed |
|
|
CA340480616 rs1320865562 |
634 | G>S | No |
ClinGen TOPMed |
|
|
rs1570311337 CA340480621 |
634 | G>V | No |
ClinGen Ensembl |
|
|
CA340480637 rs1570311347 |
636 | S>R | No |
ClinGen Ensembl |
|
|
CA039618 rs752741155 |
638 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1557509722 CA340480647 |
638 | L>P | No |
ClinGen Ensembl |
|
|
rs758249397 CA039660 |
639 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295327841 CA340480653 |
639 | P>L | No |
ClinGen TOPMed |
|
|
rs1295327841 CA340480652 |
639 | P>R | No |
ClinGen TOPMed |
|
|
rs763903895 CA039674 |
641 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1570311380 CA340480660 |
641 | T>P | No |
ClinGen Ensembl |
|
|
CA340480666 rs1288490306 |
642 | S>P | No |
ClinGen gnomAD |
|
|
CA039695 rs759818065 |
643 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA039713 rs145770391 |
643 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143291739 CA039753 |
644 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141438059 CA039776 |
647 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138178437 CA039789 |
648 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA039821 rs371744393 |
649 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748466083 CA039847 |
650 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA039835 rs767706622 |
650 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770716587 CA039858 |
651 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201280059 CA039871 |
652 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA039889 rs759099468 |
653 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22768334 rs759099468 |
653 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410324162 CA340480736 |
654 | C>F | No |
ClinGen gnomAD |
|
|
CA039939 rs762968029 |
654 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA039946 rs763958625 |
655 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757109873 CA039971 |
656 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA039983 rs767286042 |
657 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA040013 rs147182054 |
659 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780214893 CA040050 |
659 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780214893 CA22768370 |
659 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147182054 CA040035 |
659 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA040089 rs755522807 |
660 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA040102 rs371914056 |
660 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22768379 rs72646530 |
660 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA040073 rs72646530 |
660 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA040138 rs375541628 |
661 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1325251210 CA340480781 |
663 | T>P | No |
ClinGen gnomAD |
|
|
CA040166 rs369851423 |
664 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340480796 rs1557509807 |
665 | G>A | No |
ClinGen Ensembl |
|
|
rs745578045 CA040179 |
666 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1433897967 CA340480806 |
667 | T>A | No |
ClinGen gnomAD |
|
|
CA040221 rs775077080 |
668 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340480815 rs1235101437 |
668 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
VAR_058537 CA040235 rs762298323 |
668 | S>R | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA10610176 rs886046435 |
669 | E>K | No |
ClinGen Ensembl |
|
|
rs886046435 CA340480817 |
669 | E>Q | No |
ClinGen Ensembl |
|
|
CA340480827 rs505151 |
670 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_017201 rs505151 CA023140 |
670 | G>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs892210400 CA22768463 |
672 | V>M | No |
ClinGen gnomAD |
|
|
rs1177353786 CA340480841 |
673 | T>A | No |
ClinGen gnomAD |
|
|
CA340480855 rs1557509864 |
675 | V>A | No |
ClinGen Ensembl |
|
|
CA040345 rs760981278 |
675 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330891367 CA340480861 |
676 | A>G | No |
ClinGen gnomAD |
|
|
CA340480867 rs1234048747 |
677 | I>T | No |
ClinGen TOPMed |
|
|
CA023143 rs28362286 |
679 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340480886 rs1346795665 |
680 | R>Q | No |
ClinGen gnomAD |
|
|
rs533555352 CA040440 |
680 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1570311586 CA340480890 |
681 | S>G | No |
ClinGen Ensembl |
|
|
CA040477 rs758946245 |
682 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753308448 CA040459 |
682 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22768530 rs550247306 |
683 | H>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA040488 rs778218461 |
683 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550247306 CA340480901 |
683 | H>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA340480907 rs1557509907 |
684 | L>Q | No |
ClinGen Ensembl |
|
|
CA040499 rs201557607 |
684 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340480912 rs1205021346 |
685 | A>T | No |
ClinGen gnomAD |
|
|
CA22768539 rs992933965 |
685 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769487037 CA340480936 |
689 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769487037 CA040513 |
689 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA040530 rs779635493 |
689 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896285434 CA22768572 |
690 | E>A | No |
ClinGen TOPMed |
|
|
rs1557509919 CA340480941 |
690 | E>K | No |
ClinGen Ensembl |
|
|
rs896285434 CA340480945 |
690 | E>V | No |
ClinGen TOPMed |
|
|
rs748956735 CA040609 |
691 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1208335900 CA340480960 |
692 | Q>H | No |
ClinGen gnomAD |
1 associated diseases with Q8NBP7
[MIM: 603776]: Hypercholesterolemia, familial, 3 (FHCL3)
A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL3 inheritance is autosomal dominant. {ECO:0000269|PubMed:12730697, ECO:0000269|PubMed:18799458, ECO:0000269|PubMed:24808179}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL3 inheritance is autosomal dominant. {ECO:0000269|PubMed:12730697, ECO:0000269|PubMed:18799458, ECO:0000269|PubMed:24808179}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q8NBP7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase S8/S53 domain | 181 - 419 | IPR000209 |
| domain | Peptidase S8 propeptide/proteinase inhibitor I9 | 77 - 149 | IPR010259 |
| domain | Proteinase K-like catalytic domain | 156 - 421 | IPR034193 |
| domain | Proprotein convertase subtilisin/kexin type 9, C-terminal domain 3 | 602 - 682 | IPR041051 |
| domain | Proprotein convertase subtilisin/kexin type 9, C-terminal domain 2 | 535 - 600 | IPR041052 |
| domain | Proprotein convertase subtilisin/kexin type 9, C-terminal domain 1 | 450 - 531 | IPR041254 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR43806 | PEPTIDASE S8 |
| PANTHER Subfamily | PTHR43806:SF60 | PROPROTEIN CONVERTASE SUBTILISIN_KEXIN TYPE 9 |
| PANTHER Protein Class |
serine protease
protease |
|
| PANTHER Pathway Category | No pathway information available | |
19 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| COPII-coated ER to Golgi transport vesicle | A vesicle with a coat formed of the COPII coat complex proteins. The COPII coat complex is formed by the Sec23p/Sec24p and the Sec13p/Sec31p heterodimers. COPII-associated vesicles transport proteins from the rough endoplasmic reticulum to the Golgi apparatus (anterograde transport). |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endolysosome membrane | The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| extrinsic component of external side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its external surface, but not integrated into the hydrophobic region. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| PCSK9-AnxA2 complex | A protein complex consisting of the serine protease PCSK9 (proprotein convertase subtilisin/kexin-9) and annexin A2 (AnxA2). |
| PCSK9-LDLR complex | A protein complex consisting of the serine protease PCSK9 (proprotein convertase subtilisin/kexin-9) and a low-density lipoprotein receptor (LDLR). Interaction typically occurs through the epidermal growth factor-like repeat A (EGF-A) domain of the LDLR, and complex formation promotes degradation of the LDLR through the endosome/lysosome pathway. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| rough endoplasmic reticulum | The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| apolipoprotein binding | Binding to an apolipoprotein, the protein component of a lipoprotein complex. |
| apolipoprotein receptor binding | Binding to an apolipoprotein receptor. |
| low-density lipoprotein particle binding | Binding to a low-density lipoprotein particle, a lipoprotein particle that is rich in cholesterol esters and low in triglycerides, is typically composed of APOB100 and APOE, and has a density of 1.02-1.06 g/ml and a diameter of between 20-25 nm. |
| low-density lipoprotein particle receptor binding | Binding to a low-density lipoprotein receptor. |
| protein self-association | Binding to a domain within the same polypeptide. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| serine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). |
| signaling receptor inhibitor activity | Binds to and modulates the activity of a signaling receptor. |
| sodium channel inhibitor activity | Binds to and stops, prevents, or reduces the activity of a sodium channel. |
| very-low-density lipoprotein particle binding | Binding to a very-low-density lipoprotein particle, a triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. |
| very-low-density lipoprotein particle receptor binding | Binding to a very-low-density lipoprotein receptor. |
27 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cellular response to insulin stimulus | 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 insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| cellular response to starvation | 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 deprivation of nourishment. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| cholesterol metabolic process | The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| lipoprotein metabolic process | The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. |
| liver development | The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes. |
| low-density lipoprotein particle receptor catabolic process | The chemical reactions and pathways resulting in the breakdown of a low-density lipoprotein particle receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| lysosomal transport | The directed movement of substances into, out of or within a lysosome. |
| negative regulation of low-density lipoprotein particle clearance | Any process that decreases the rate, frequency or extent of low-density lipoprotein particle clearance. Low-density lipoprotein particle clearance is the process in which a low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. |
| negative regulation of low-density lipoprotein particle receptor binding | Any process that stops, prevents or reduces the frequency, rate or extent of low-density lipoprotein particle receptor binding. |
| negative regulation of low-density lipoprotein receptor activity | Any process that stops, prevents or reduces the frequency, rate or extent of low-density lipoprotein receptor activity. |
| negative regulation of receptor internalization | Any process that stops, prevents, or reduces the frequency, rate or extent of receptor internalization. |
| negative regulation of receptor recycling | Any process that stops, prevents, or reduces the rate of receptor recycling. |
| negative regulation of receptor-mediated endocytosis involved in cholesterol transport | Any process that stops, prevents or reduces the frequency, rate or extent of receptor-mediated endocytosis involved in cholesterol transport. |
| negative regulation of sodium ion transmembrane transporter activity | Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion transmembrane transporter activity. |
| neurogenesis | Generation of cells within the nervous system. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| phospholipid metabolic process | The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
| positive regulation of low-density lipoprotein particle receptor catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of low-density lipoprotein particle receptors. |
| positive regulation of neuron apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process. |
| positive regulation of receptor internalization | Any process that activates or increases the frequency, rate or extent of receptor internalization. |
| protein autoprocessing | Processing which a protein carries out itself. This involves actions such as the autolytic removal of residues to generate the mature form of the protein. |
| regulation of neuron apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process in neurons. |
| regulation of signaling receptor activity | Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. |
| triglyceride metabolic process | The chemical reactions and pathways involving triglyceride, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triglycerides are important components of plant oils, animal fats and animal plasma lipoproteins. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A8T644 | PCSK9 | Proprotein convertase subtilisin/kexin type 9 | Pan troglodytes (Chimpanzee) | SS |
| Q14703 | MBTPS1 | Membrane-bound transcription factor site-1 protease | Homo sapiens (Human) | PR |
| Q80W65 | Pcsk9 | Proprotein convertase subtilisin/kexin type 9 | Mus musculus (Mouse) | SS |
| P59996 | Pcsk9 | Proprotein convertase subtilisin/kexin type 9 | Rattus norvegicus (Rat) | SS |
| A8T666 | PCSK9 | Proprotein convertase subtilisin/kexin type 9 | Macaca mulatta (Rhesus macaque) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGTVSSRRSW | WPLPLLLLLL | LLLGPAGARA | QEDEDGDYEE | LVLALRSEED | GLAEAPEHGT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TATFHRCAKD | PWRLPGTYVV | VLKEETHLSQ | SERTARRLQA | QAARRGYLTK | ILHVFHGLLP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GFLVKMSGDL | LELALKLPHV | DYIEEDSSVF | AQSIPWNLER | ITPPRYRADE | YQPPDGGSLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EVYLLDTSIQ | SDHREIEGRV | MVTDFENVPE | EDGTRFHRQA | SKCDSHGTHL | AGVVSGRDAG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VAKGASMRSL | RVLNCQGKGT | VSGTLIGLEF | IRKSQLVQPV | GPLVVLLPLA | GGYSRVLNAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CQRLARAGVV | LVTAAGNFRD | DACLYSPASA | PEVITVGATN | AQDQPVTLGT | LGTNFGRCVD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LFAPGEDIIG | ASSDCSTCFV | SQSGTSQAAA | HVAGIAAMML | SAEPELTLAE | LRQRLIHFSA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KDVINEAWFP | EDQRVLTPNL | VAALPPSTHG | AGWQLFCRTV | WSAHSGPTRM | ATAVARCAPD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EELLSCSSFS | RSGKRRGERM | EAQGGKLVCR | AHNAFGGEGV | YAIARCCLLP | QANCSVHTAP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PAEASMGTRV | HCHQQGHVLT | GCSSHWEVED | LGTHKPPVLR | PRGQPNQCVG | HREASIHASC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CHAPGLECKV | KEHGIPAPQE | QVTVACEEGW | TLTGCSALPG | TSHVLGAYAV | DNTCVVRSRD |
| 670 | 680 | 690 | |||
| VSTTGSTSEG | AVTAVAICCR | SRHLAQASQE | LQ |