Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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UniProtID
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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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 -