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 19 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O43918 non-pleiotropic VAR_013714 p.Thr16Met Disease rs179363877 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013724 p.Pro326Gln Disease rs179363885 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013716 p.Trp78Arg Disease rs179363880 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_026484 p.Pro252Leu Disease rs34397615 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013713 p.Arg15Leu Disease rs179363876 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013722 p.Gly305Ser Non-Disease - - -
O43918 non-pleiotropic VAR_026481 p.Ala21Val Disease rs179363886 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_026486 p.Pro539Leu Disease rs179363889 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_005004 p.Leu28Pro Disease rs179363878 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_005006 p.Ser278Arg Non-Disease rs1800520 0.2296 -
O43918 non-pleiotropic VAR_013717 p.Val80Leu Disease rs179363881 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_026480 p.Arg15Cys Disease rs179363875 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013718 p.Tyr85Cys Disease rs179363882 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013715 p.Leu29Pro Disease rs179363879 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013720 p.Leu93Arg Disease rs179363884 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_014422 p.Gly228Trp Disease - - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
P00568 non-pleiotropic VAR_055338 p.Gly64Arg Disease - - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
P00568 non-pleiotropic VAR_055340 p.Tyr164Cys Disease - - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
P00568 non-pleiotropic VAR_004021 p.Arg128Trp Disease rs28930974 - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
P00568 non-pleiotropic VAR_034046 p.Glu123Gln Non-Disease rs8192462 0.0193 -
P00568 non-pleiotropic VAR_055337 p.Gly40Arg Disease - - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
P54819 non-pleiotropic VAR_054631 p.Asp165Gly Disease - - Reticular dysgenesis (RDYS) [MIM:267500]
P54819 non-pleiotropic VAR_050032 p.Ala209Thr Non-Disease rs12116440 0.006 -
P54819 non-pleiotropic VAR_054630 p.Arg103Trp Disease - - Reticular dysgenesis (RDYS) [MIM:267500]
P52895 non-pleiotropic VAR_066634 p.His222Gln Disease - - 46,XY sex reversal 8 (SRXY8) [MIM:614279]
P52895 non-pleiotropic VAR_066632 p.Ile79Val Disease - - 46,XY sex reversal 8 (SRXY8) [MIM:614279]
P52895 non-pleiotropic VAR_066633 p.His90Gln Disease - - 46,XY sex reversal 8 (SRXY8) [MIM:614279]
P52895 non-pleiotropic VAR_014748 p.Leu172Gln Non-Disease rs11474 0.0005 -
P52895 non-pleiotropic VAR_066635 p.Asn300Thr Disease - - 46,XY sex reversal 8 (SRXY8) [MIM:614279]
P52895 non-pleiotropic VAR_048216 p.Phe46Tyr Non-Disease rs2854482 0.051 -
P51857 non-pleiotropic VAR_044430 p.Pro133Arg Disease - - Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P51857 non-pleiotropic VAR_033008 p.Pro198Leu Disease - - Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P51857 non-pleiotropic VAR_033007 p.Leu106Phe Disease - - Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P51857 non-pleiotropic VAR_044431 p.Arg261Cys Disease - - Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
P31749 pleiotropic VAR_055422 p.Glu17Lys Disease rs121434592 - Breast cancer (BC) [MIM:114480]
Proteus syndrome (PROTEUSS) [MIM:176920]
P31749 pleiotropic VAR_051617 p.Val167Ala Non-Disease rs11555433 - -
Q9Y243 non-pleiotropic VAR_069260 p.Asn229Ser Disease - - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) [MIM:603387]
Q9Y243 non-pleiotropic VAR_069261 p.Arg465Trp Disease - - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) [MIM:603387]
Q9Y243 non-pleiotropic VAR_065830 p.Glu17Lys Disease - - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) [MIM:603387]
P02768 non-pleiotropic VAR_014292 p.Ala215Val Non-Disease rs3204504 - -
P02768 non-pleiotropic VAR_013013 p.Arg242Pro Disease - - Dysalbuminemic hyperthyroxinemia (DH) [MIM:103600]
P02768 non-pleiotropic VAR_014291 p.Ala215Thr Non-Disease rs3210154 - -
P02768 non-pleiotropic VAR_013011 p.Leu90Pro Disease - - Dysalbuminemic hyperthyroxinemia (DH) [MIM:103600]
P02768 non-pleiotropic VAR_014295 p.Lys490Glu Non-Disease rs1063469 - -
P02768 non-pleiotropic VAR_000514 p.Arg242His Disease - - Dysalbuminemic hyperthyroxinemia (DH) [MIM:103600]
P02768 non-pleiotropic VAR_014290 p.Glu121Gly Non-Disease - - -
P02768 non-pleiotropic VAR_014294 p.Glu420Lys Non-Disease - - -
P02768 non-pleiotropic VAR_014293 p.Gln220Leu Non-Disease rs3210163 - -
P02768 non-pleiotropic VAR_013018 p.Val557Met Non-Disease rs78284052 0.0014 -
P02768 non-pleiotropic VAR_010657 p.Phe73Tyr Non-Disease - - -