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 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] |