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 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 -