Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 198 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q09470 | non-pleiotropic | VAR_001510 | p.Thr226Ala | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_020832 | p.Glu325Asp | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_020831 | p.Thr226Met | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_020834 | p.Ser342Ile | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_020830 | p.Phe184Cys | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_037100 | p.Thr226Lys | Disease | rs28933383 | - | Myokymia isolated 1 (MK1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_001511 | p.Arg239Ser | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_037103 | p.Pro244His | Disease | rs28933382 | - | Myokymia isolated 1 (MK1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_001512 | p.Phe249Ile | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_001508 | p.Val174Phe | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_001514 | p.Val408Ala | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_001513 | p.Val404Ile | Disease | - | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q09470 | non-pleiotropic | VAR_020051 | p.Arg204His | Non-Disease | rs2229000 | 0.0002 | - |
Q09470 | non-pleiotropic | VAR_037101 | p.Thr226Arg | Disease | rs28933383 | - | Episodic ataxia 1 (EA1) [MIM:160120] |
Q14003 | non-pleiotropic | VAR_029531 | p.Phe448Leu | Disease | - | - | Spinocerebellar ataxia 13 (SCA13) [MIM:605259] |
Q14003 | non-pleiotropic | VAR_029530 | p.Arg420His | Disease | - | - | Spinocerebellar ataxia 13 (SCA13) [MIM:605259] |
Q9UK17 | non-pleiotropic | VAR_070787 | p.Gly345Val | Disease | - | - | Spinocerebellar ataxia 19 (SCA19) [MIM:607346] |
Q9UK17 | non-pleiotropic | VAR_070786 | p.Val338Glu | Disease | - | - | Spinocerebellar ataxia 19 (SCA19) [MIM:607346] |
Q9UK17 | non-pleiotropic | VAR_070790 | p.Thr377Met | Disease | - | - | Spinocerebellar ataxia 19 (SCA19) [MIM:607346] |
Q9UK17 | non-pleiotropic | VAR_070791 | p.Ser390Asn | Disease | - | - | Spinocerebellar ataxia 19 (SCA19) [MIM:607346] |
Q9UK17 | non-pleiotropic | VAR_070789 | p.Met373Ile | Disease | - | - | Spinocerebellar ataxia 19 (SCA19) [MIM:607346] |
Q9UK17 | non-pleiotropic | VAR_070788 | p.Thr352Pro | Disease | - | - | Spinocerebellar ataxia 19 (SCA19) [MIM:607346] |
Q9Y6J6 | pleiotropic | VAR_015063 | p.Val65Met | Disease | - | - | Long QT syndrome 6 (LQT6) [MIM:613693] |
Q9Y6J6 | pleiotropic | VAR_008377 | p.Met54Thr | Disease | - | - | Long QT syndrome 6 (LQT6) [MIM:613693] |
Q9Y6J6 | pleiotropic | VAR_037794 | p.Thr8Ile | Non-Disease | rs35759083 | - | - |
Q9Y6J6 | pleiotropic | VAR_037795 | p.Arg27Cys | Disease | - | - | Atrial fibrillation, familial, 4 (ATFB4) [MIM:611493] |
Q9Y6J6 | pleiotropic | VAR_008378 | p.Ile57Thr | Disease | rs74315448 | 0.0008 | Long QT syndrome 6 (LQT6) [MIM:613693] |
Q9Y6J6 | pleiotropic | VAR_008375 | p.Thr8Ala | Non-Disease | rs2234916 | 0.0018 | - |
Q9Y6J6 | pleiotropic | VAR_022052 | p.Ala66Val | Non-Disease | rs16991656 | - | - |
Q9Y6J6 | pleiotropic | VAR_035386 | p.Arg77Trp | Disease | - | - | Long QT syndrome 6 (LQT6) [MIM:613693] |
Q9Y6J6 | pleiotropic | VAR_008376 | p.Gln9Glu | Disease | rs16991652 | 0.0048 | Long QT syndrome 6 (LQT6) [MIM:613693] |
Q9Y6J6 | pleiotropic | VAR_029334 | p.Phe60Leu | Disease | rs16991654 | - | Long QT syndrome 6 (LQT6) [MIM:613693] |
Q9Y6H6 | non-pleiotropic | VAR_058635 | p.Thr4Ala | Non-Disease | rs200856070 | 0.0014 | - |
Q9Y6H6 | non-pleiotropic | VAR_058636 | p.Pro39Arg | Non-Disease | rs34604640 | 0.0005 | - |
Q9Y6H6 | non-pleiotropic | VAR_058637 | p.Arg99His | Disease | rs121908441 | 0.0006 | Brugada syndrome 6 (BRGDA6) [MIM:613119] |
P48048 | non-pleiotropic | VAR_001552 | p.Pro110Leu | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_001549 | p.Asp74Tyr | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_019727 | p.Met357Thr | Disease | rs59172778 | 0.0028 | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_001551 | p.Asp108His | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_019725 | p.Ala214Val | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_001550 | p.Trp99Cys | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_049668 | p.Arg6Trp | Non-Disease | rs34191956 | - | - |
P48048 | non-pleiotropic | VAR_001553 | p.Val122Glu | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_001554 | p.Gly167Glu | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_019726 | p.Ser219Arg | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_001556 | p.Val315Gly | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_019724 | p.Asn124Lys | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_001555 | p.Ala198Thr | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
P48048 | non-pleiotropic | VAR_001548 | p.Val72Glu | Disease | - | - | Bartter syndrome 2 (BS2) [MIM:241200] |
Q14654 | pleiotropic | VAR_008661 | p.Leu270Val | Non-Disease | rs1800467 | 0.0152 | - |