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 277 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O00459 non-pleiotropic VAR_030680 p.Ser313Pro Non-Disease rs1011320 0.045 -
Q8WYR1 non-pleiotropic VAR_067052 p.Pro629Ser Disease rs61761068 0.0098 Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217]
Q9Y2I7 non-pleiotropic VAR_063408 p.Gln995Leu Non-Disease rs893254 0.0849 -
Q9Y2I7 non-pleiotropic VAR_057098 p.Ser1033Ala Non-Disease rs999890 0.0918 -
Q9Y2I7 non-pleiotropic VAR_063409 p.Thr998Ser Non-Disease rs893253 0.0638 -
Q9Y2I7 non-pleiotropic VAR_025309 p.Lys1103Arg Disease - - Corneal dystrophy, fleck (CFD) [MIM:121850]
Q9Y2I7 non-pleiotropic VAR_063407 p.Leu932Ser Non-Disease rs2363468 0.0615 -
Q9Y2I7 non-pleiotropic VAR_057097 p.Met617Val Non-Disease rs16840913 0.023 -
Q9Y2I7 non-pleiotropic VAR_063406 p.Ser696Asn Non-Disease rs10932258 0.0064 -
Q9Y2I7 non-pleiotropic VAR_057099 p.Arg1858Gln Non-Disease rs2289170 0.0018 -
Q9Y2I7 non-pleiotropic VAR_063410 p.Gln1183Lys Non-Disease rs1529979 0.062 -
Q9BXM7 non-pleiotropic VAR_041016 p.Cys377Phe Non-Disease rs34203620 - -
Q9BXM7 non-pleiotropic VAR_046587 p.Arg279His Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046592 p.Pro322Leu Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046600 p.Pro425Ser Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046578 p.Ala217Asp Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046566 p.Leu67Phe Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046579 p.Glu231Gly Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_041010 p.Leu148Trp Non-Disease rs56297806 - -
Q9BXM7 non-pleiotropic VAR_062778 p.Arg407Gln Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046580 p.Asn235Ile Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_041012 p.Pro209Leu Non-Disease rs34677717 0.0005 -
Q9BXM7 non-pleiotropic VAR_046581 p.Glu240Lys Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_041014 p.Ala339Thr Non-Disease rs55831733 0.0009 -
Q9BXM7 non-pleiotropic VAR_046589 p.Thr313Met Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046576 p.Lys186Asn Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046573 p.Thr145Met Non-Disease rs45604240 - -
Q9BXM7 non-pleiotropic VAR_046583 p.Arg263Gly Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046594 p.Asp362His Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_018996 p.Asn521Thr Non-Disease rs1043424 0.2805 -
Q9BXM7 non-pleiotropic VAR_046609 p.Asp525Asn Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046593 p.Leu347Pro Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046595 p.Ala383Thr Non-Disease rs45515602 0.0 -
Q9BXM7 non-pleiotropic VAR_046598 p.Gly411Ser Non-Disease rs45478900 0.0005 -
Q9BXM7 non-pleiotropic VAR_046611 p.Ala537Thr Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046590 p.Val317Ile Non-Disease rs200949139 0.0005 -
Q9BXM7 non-pleiotropic VAR_062779 p.Gly409Val Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_062775 p.Leu369Pro Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_064344 p.Gln126Pro Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_062776 p.Gly386Ala Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_062773 p.Cys125Gly Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046607 p.Leu489Pro Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046588 p.Pro296Leu Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046584 p.Leu268Val Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_041011 p.Pro196Ser Non-Disease rs35802484 0.0005 -
Q9BXM7 non-pleiotropic VAR_046585 p.His271Gln Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046569 p.Arg98Trp Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_018995 p.Ala340Thr Non-Disease rs3738136 0.101 -
Q9BXM7 non-pleiotropic VAR_046591 p.Met318Leu Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_018993 p.Pro305Leu Non-Disease rs7349186 - -