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 266 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P55809 | non-pleiotropic | VAR_065565 | p.Ser226Asn | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_065566 | p.Leu327Pro | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_065564 | p.Ala215Val | Disease | rs201752548 | 0.0002 | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_065569 | p.Arg468Cys | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_010339 | p.Gly324Glu | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_000695 | p.Thr58Met | Non-Disease | rs75134564 | 0.0032 | - |
P55809 | non-pleiotropic | VAR_065567 | p.Val404Phe | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_000696 | p.Val133Glu | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_010338 | p.Val221Met | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
Q9UBL9 | non-pleiotropic | VAR_070688 | p.Gly353Arg | Disease | - | - | Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224] |
Q9UBL9 | non-pleiotropic | VAR_070687 | p.Val60Leu | Disease | - | - | Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224] |
Q9H244 | non-pleiotropic | VAR_025384 | p.Arg265Trp | Disease | - | - | Bleeding disorder, platelet-type 8 (BDPLT8) [MIM:609821] |
Q9H244 | non-pleiotropic | VAR_049431 | p.Glu330Gly | Non-Disease | rs16846673 | 0.0207 | - |
Q9H244 | non-pleiotropic | VAR_025383 | p.Arg256Gln | Disease | - | - | Bleeding disorder, platelet-type 8 (BDPLT8) [MIM:609821] |
Q6VY07 | non-pleiotropic | VAR_069534 | p.Arg203Trp | Disease | - | - | Mental retardation, autosomal dominant 17 (MRD17) [MIM:615009] |
Q6VY07 | non-pleiotropic | VAR_053797 | p.Phe302Leu | Non-Disease | rs12798852 | - | - |
O75914 | non-pleiotropic | VAR_023826 | p.Ala380Glu | Disease | - | - | Mental retardation, X-linked 30 (MRX30) [MIM:300558] |
O75914 | non-pleiotropic | VAR_023825 | p.Arg67Cys | Disease | - | - | Mental retardation, X-linked 30 (MRX30) [MIM:300558] |
O95340 | non-pleiotropic | VAR_022077 | p.Val291Met | Non-Disease | rs45467596 | 0.0096 | - |
O95340 | non-pleiotropic | VAR_063049 | p.Thr48Arg | Disease | - | - | Spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA) [MIM:612847] |
O95340 | non-pleiotropic | VAR_029137 | p.Met281Leu | Non-Disease | rs45624631 | 0.0101 | - |
O95340 | non-pleiotropic | VAR_029138 | p.Arg432Lys | Non-Disease | - | - | - |
O95340 | non-pleiotropic | VAR_029136 | p.Glu10Lys | Non-Disease | rs17173698 | 0.0066 | - |
Q99497 | non-pleiotropic | VAR_034801 | p.Glu163Lys | Non-Disease | - | - | - |
Q99497 | non-pleiotropic | VAR_020498 | p.Leu166Pro | Disease | rs28938172 | - | Parkinson disease 7 (PARK7) [MIM:606324] |
Q99497 | non-pleiotropic | VAR_020496 | p.Asp149Ala | Disease | rs74315352 | 0.001 | Parkinson disease 7 (PARK7) [MIM:606324] |
Q99497 | non-pleiotropic | VAR_020497 | p.Gly150Ser | Non-Disease | - | - | - |
Q99497 | non-pleiotropic | VAR_020492 | p.Met26Ile | Disease | - | - | Parkinson disease 7 (PARK7) [MIM:606324] |
Q99497 | non-pleiotropic | VAR_020493 | p.Glu64Asp | Disease | - | - | Parkinson disease 7 (PARK7) [MIM:606324] |
Q99497 | non-pleiotropic | VAR_020499 | p.Ala171Ser | Non-Disease | - | - | - |
Q99497 | non-pleiotropic | VAR_020495 | p.Ala104Thr | Disease | - | - | Parkinson disease 7 (PARK7) [MIM:606324] |
Q99497 | non-pleiotropic | VAR_020494 | p.Arg98Gln | Non-Disease | rs71653619 | 0.0064 | - |
P15863 | non-pleiotropic | VAR_055369 | p.Thr439Arg | Non-Disease | rs17861058 | - | - |
P15863 | non-pleiotropic | VAR_070922 | p.Gly166Val | Disease | - | - | Otofaciocervical syndrome 2 (OFC2) [MIM:615560] |
P15863 | non-pleiotropic | VAR_055370 | p.Pro453Leu | Non-Disease | rs17861059 | 0.0046 | - |
P15863 | non-pleiotropic | VAR_055371 | p.Pro504Leu | Non-Disease | rs17861061 | 0.0083 | - |
P23760 | pleiotropic | VAR_017535 | p.Tyr90His | Disease | rs28939096 | - | Waardenburg syndrome 3 (WS3) [MIM:148820] |
P23760 | pleiotropic | VAR_017534 | p.Val78Met | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003803 | p.Gly99Asp | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003800 | p.Gly81Ala | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003791 | p.Asn47His | Disease | - | - | Waardenburg syndrome 3 (WS3) [MIM:148820] |
P23760 | pleiotropic | VAR_003805 | p.Val265Phe | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003796 | p.Ile59Asn | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003798 | p.Met62Val | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_017533 | p.Gly48Arg | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003793 | p.Pro50Leu | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003795 | p.Ile59Phe | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003792 | p.Asn47Lys | Disease | - | - | Craniofacial-deafness-hand syndrome (CDHS) [MIM:122880] |
P23760 | pleiotropic | VAR_017538 | p.Arg271His | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_013640 | p.Ser73Leu | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |