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 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 | - | - | - |