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 267 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P23760 pleiotropic VAR_003802 p.Lys85Glu Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_013641 p.Gln391His Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_003801 p.Ser84Phe Disease - - Waardenburg syndrome 3 (WS3) [MIM:148820]
P23760 pleiotropic VAR_003804 p.Phe238Ser Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_003797 p.Val60Met Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_013619 p.Arg270Cys Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
Waardenburg syndrome 3 (WS3) [MIM:148820]
P23760 pleiotropic VAR_003806 p.Arg271Gly Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_003794 p.Arg56Leu Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_017537 p.Arg271Cys Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_003790 p.Phe45Leu Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_017536 p.Trp266Cys Disease - - Waardenburg syndrome 1 (WS1) [MIM:193500]
P23760 pleiotropic VAR_003807 p.Thr315Lys Non-Disease rs2234675 0.0207 -
Q02548 non-pleiotropic VAR_070681 p.Val151Ile Non-Disease - 0.011 -
Q02548 non-pleiotropic VAR_070676 p.Arg59Gly Non-Disease - - -
Q02548 non-pleiotropic VAR_070680 p.Ile139Thr Non-Disease - - -
Q02548 non-pleiotropic VAR_070679 p.Pro80Arg Non-Disease - - -
Q02548 non-pleiotropic VAR_070673 p.Val26Gly Non-Disease - - -
Q02548 non-pleiotropic VAR_070686 p.Gly338Val Non-Disease - - -
Q02548 non-pleiotropic VAR_070672 p.Gly24Arg Non-Disease - - -
Q02548 non-pleiotropic VAR_034370 p.Ala322Thr Non-Disease rs34810717 0.0032 -
Q02548 non-pleiotropic VAR_070675 p.Asp53Val Non-Disease - - -
Q02548 non-pleiotropic VAR_070674 p.Pro34Gln Non-Disease - - -
Q02548 non-pleiotropic VAR_070684 p.Ser213Leu Non-Disease - 0.0005 -
Q02548 non-pleiotropic VAR_070682 p.Gly183Ser Disease - - Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065]
Q02548 non-pleiotropic VAR_070677 p.Ser66Asn Non-Disease - - -
Q02548 non-pleiotropic VAR_070683 p.Gly183Val Non-Disease - - -
Q02548 non-pleiotropic VAR_070678 p.Thr75Arg Non-Disease - - -
Q02548 non-pleiotropic VAR_070685 p.Ile301Thr Non-Disease - - -
P26367 pleiotropic VAR_008705 p.Val126Asp Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_003811 p.Ile29Val Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_017544 p.Ser363Pro Disease - - Peters anomaly (PETAN) [MIM:604229]
P26367 pleiotropic VAR_008706 p.Arg208Gln Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_047865 p.Ile87Lys Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_008698 p.Ser43Pro Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_047866 p.Arg242Thr Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_003812 p.Arg44Gln Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_017541 p.Arg125Cys Disease - - Foveal hypoplasia 1 (FVH1) [MIM:136520]
P26367 pleiotropic VAR_008699 p.Val53Leu Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_017542 p.Phe258Ser Disease - - Coloboma of iris choroid and retina (COI) [MIM:120200]
P26367 pleiotropic VAR_008695 p.Ala33Pro Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_017546 p.Met381Val Disease - - Bilateral optic nerve hypoplasia (BONH) [MIM:165550]
P26367 pleiotropic VAR_047868 p.Gly387Asp Non-Disease - - -
P26367 pleiotropic VAR_008703 p.Ala79Glu Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_003813 p.Ile87Arg Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_047864 p.Gly73Asp Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_003815 p.Gln178His Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_047861 p.Leu46Arg Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_047862 p.Cys52Arg Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_008707 p.Ser353Ala Disease - - Aniridia (AN) [MIM:106210]
P26367 pleiotropic VAR_008700 p.Val53Asp Disease - - Peters anomaly (PETAN) [MIM:604229]