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 76 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q13286 non-pleiotropic VAR_066893 p.Gly187Ala Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286 non-pleiotropic VAR_005131 p.Leu101Pro Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286 non-pleiotropic VAR_005132 p.Leu170Pro Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286 non-pleiotropic VAR_005136 p.Arg334His Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
O75503 non-pleiotropic VAR_005137 p.Asp230Asn Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_059031 p.Glu219Ala Non-Disease rs11842935 - -
O75503 non-pleiotropic VAR_042701 p.Tyr209Asp Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_066901 p.Trp158Ser Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_066895 p.Trp26Arg Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_066896 p.Cys77Tyr Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_042700 p.Arg63His Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_066902 p.Asn193Lys Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_059032 p.Trp330Cys Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_066898 p.Leu149Pro Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_066899 p.Pro156Ser Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_042702 p.Arg63Pro Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_066903 p.Tyr325Cys Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_066900 p.Trp158Arg Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
O75503 non-pleiotropic VAR_005138 p.Lys319Arg Non-Disease rs1800209 0.2446 -
O75503 non-pleiotropic VAR_066897 p.Asn143Ser Disease - - Ceroid lipofuscinosis, neuronal, 5 (CLN5) [MIM:256731]
Q16740 non-pleiotropic VAR_070093 p.Cys147Ser Disease - - Perrault syndrome 3 (PRLTS3) [MIM:614129]
Q16740 non-pleiotropic VAR_070092 p.Thr145Pro Disease - - Perrault syndrome 3 (PRLTS3) [MIM:614129]
P29973 non-pleiotropic VAR_047385 p.Asn122Asp Non-Disease rs28642966 0.1997 -
P29973 non-pleiotropic VAR_009296 p.Asp118Asn Non-Disease rs28642966 0.2264 -
P29973 non-pleiotropic VAR_009297 p.Ser320Phe Disease rs62625014 0.0006 Retinitis pigmentosa 49 (RP49) [MIM:613756]
P29973 non-pleiotropic VAR_009295 p.Arg32Gln Non-Disease rs76537883 0.0064 -
Q16281 non-pleiotropic VAR_047565 p.Pro48Leu Non-Disease rs62156348 0.0028 -
Q16281 non-pleiotropic VAR_010909 p.Gly557Arg Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_010905 p.Arg283Trp Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047584 p.Pro372Ser Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_069398 p.Trp335Cys Non-Disease - - -
Q16281 non-pleiotropic VAR_047597 p.Ile522Thr Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047593 p.Asp485Val Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047576 p.Asp260Asn Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047586 p.Ser401Pro Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_021963 p.Glu198Lys Non-Disease rs2271041 0.0156 -
Q16281 non-pleiotropic VAR_047568 p.Asn182Tyr Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047591 p.Ala469Thr Disease rs117522010 - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047566 p.Asp162Val Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047603 p.Tyr573Cys Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047571 p.Glu194Lys Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047582 p.Ser341Pro Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047567 p.Tyr181Cys Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_010903 p.Pro163Leu Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047572 p.Arg223Trp Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_010908 p.Phe547Leu Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047578 p.Gly267Asp Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047588 p.Arg427Cys Disease rs141386891 0.0004 Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047583 p.Thr369Ser Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_010907 p.Val529Met Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]