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 78 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O43405 | non-pleiotropic | VAR_008536 | p.Trp117Arg | Disease | - | - | Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] |
O43405 | non-pleiotropic | VAR_022259 | p.Gly135Arg | Non-Disease | rs28400035 | 0.0005 | - |
O43405 | non-pleiotropic | VAR_008532 | p.Pro51Ser | Disease | rs28938175 | - | Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] |
O43405 | non-pleiotropic | VAR_022260 | p.Asp281Asn | Non-Disease | rs28362775 | 0.0018 | - |
O43405 | non-pleiotropic | VAR_008534 | p.Gly88Glu | Disease | - | - | Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] |
O43405 | non-pleiotropic | VAR_008533 | p.Val66Gly | Disease | - | - | Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] |
O43405 | non-pleiotropic | VAR_022261 | p.Ile402Val | Non-Disease | rs28362778 | 0.0032 | - |
O43405 | non-pleiotropic | VAR_011925 | p.Thr352Ser | Non-Disease | rs1045644 | 0.4665 | - |
Q9H9E3 | non-pleiotropic | VAR_058009 | p.Thr158Ile | Non-Disease | rs3931036 | 0.0436 | - |
Q9H9E3 | non-pleiotropic | VAR_063767 | p.Arg729Trp | Disease | - | - | Congenital disorder of glycosylation 2J (CDG2J) [MIM:613489] |
Q03692 | non-pleiotropic | VAR_048767 | p.Gly98Arg | Non-Disease | rs2243370 | - | - |
Q03692 | non-pleiotropic | VAR_023186 | p.Met27Thr | Non-Disease | rs1064583 | 0.4224 | - |
Q03692 | non-pleiotropic | VAR_001840 | p.Gly545Arg | Non-Disease | rs2228547 | 0.1823 | - |
Q03692 | non-pleiotropic | VAR_023189 | p.Gly595Arg | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_023188 | p.Tyr582Asp | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_023191 | p.Trp651Arg | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001844 | p.Tyr598Asp | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_023187 | p.Arg198His | Non-Disease | rs148785195 | 0.0023 | - |
Q03692 | non-pleiotropic | VAR_001850 | p.Asp648Gly | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001839 | p.Gly18Arg | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001845 | p.Ser600Pro | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001847 | p.Asn617Lys | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001846 | p.Leu614Pro | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_023190 | p.Val603Met | Non-Disease | - | - | - |
Q03692 | non-pleiotropic | VAR_001843 | p.Tyr597His | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001849 | p.Leu644Arg | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001838 | p.Gly18Glu | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001842 | p.Gly595Glu | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_008039 | p.Tyr597Cys | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_023193 | p.Ser671Pro | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001841 | p.Cys591Arg | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_023192 | p.Gln653Pro | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
Q03692 | non-pleiotropic | VAR_001848 | p.Gly618Val | Disease | - | - | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500] |
P12107 | pleiotropic | VAR_047725 | p.Gly559Ser | Non-Disease | rs12143815 | - | - |
P12107 | pleiotropic | VAR_013583 | p.Gly625Val | Disease | - | - | Stickler syndrome 2 (STL2) [MIM:604841] |
P12107 | pleiotropic | VAR_065905 | p.Gly1042Arg | Disease | - | - | Fibrochondrogenesis 1 (FBCG1) [MIM:228520] |
P12107 | pleiotropic | VAR_047726 | p.Pro1323Leu | Non-Disease | rs3753841 | 0.4674 | - |
P12107 | pleiotropic | VAR_063676 | p.Gly1027Arg | Disease | - | - | Stickler syndrome 2 (STL2) [MIM:604841] |
P12107 | pleiotropic | VAR_047728 | p.Leu1805Phe | Non-Disease | rs1975916 | - | - |
P12107 | pleiotropic | VAR_047727 | p.Ser1535Pro | Non-Disease | rs1676486 | 0.1846 | - |
P12107 | pleiotropic | VAR_063675 | p.Gly565Val | Disease | - | - | Stickler syndrome 2 (STL2) [MIM:604841] |
P12107 | pleiotropic | VAR_063678 | p.Gly1513Asp | Disease | - | - | Stickler syndrome 2 (STL2) [MIM:604841] |
P12107 | pleiotropic | VAR_047724 | p.Asp46Glu | Non-Disease | rs11164663 | 0.0624 | - |
P12107 | pleiotropic | VAR_013584 | p.Gly676Arg | Disease | - | - | Stickler syndrome 2 (STL2) [MIM:604841] |
P12107 | pleiotropic | VAR_047723 | p.Trp8Gly | Non-Disease | rs12025888 | - | - |
P12107 | pleiotropic | VAR_065904 | p.Gly796Arg | Disease | - | - | Fibrochondrogenesis 1 (FBCG1) [MIM:228520] |
P12107 | pleiotropic | VAR_013587 | p.Gly1516Val | Disease | - | - | Stickler syndrome 2 (STL2) [MIM:604841] |
P13942 | pleiotropic | VAR_010656 | p.Arg1034Cys | Disease | - | - | Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868] |
P13942 | pleiotropic | VAR_001907 | p.Gly661Arg | Disease | - | - | Otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150] |
P13942 | pleiotropic | VAR_013597 | p.Arg1600Gln | Non-Disease | rs1799912 | 0.0064 | - |