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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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 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]