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 14 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q76LX8 non-pleiotropic VAR_027133 p.Cys1024Gly Disease rs121908472 0.0002 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067771 p.Ser119Phe Disease rs281875291 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067773 p.Ser203Pro Disease rs281875298 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067778 p.Cys311Tyr Disease rs281875336 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067784 p.Gly525Asp Disease rs281875286 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067794 p.Ser1314Leu Non-Disease rs142060916 0.0018 -
Q76LX8 non-pleiotropic VAR_067792 p.Arg1060Trp Disease rs142572218 0.0008 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027136 p.Arg1123Cys Disease rs281875340 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027114 p.Thr196Ile Disease rs121908470 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027113 p.Arg193Trp Disease rs281875287 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027132 p.Cys951Gly Disease rs121908468 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067789 p.Cys758Arg Disease rs281875300 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027123 p.Arg528Gly Disease rs121908473 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067779 p.Thr339Arg Non-Disease rs149517360 0.0055 -
Q76LX8 non-pleiotropic VAR_067774 p.Leu232Gln Disease rs281875292 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027129 p.Ala900Val Non-Disease rs685523 0.0863 -
Q76LX8 non-pleiotropic VAR_027166 p.Thr1226Ile Non-Disease rs36222894 0.0046 -
Q76LX8 non-pleiotropic VAR_027134 p.Ala1033Thr Non-Disease rs28503257 0.0197 -
Q76LX8 non-pleiotropic VAR_067785 p.Ala596Val Disease rs281875299 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027110 p.Val88Met Disease rs281875302 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027127 p.Arg692Cys Disease rs121908475 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027138 p.Gly1239Val Disease rs281875303 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067782 p.Pro353Leu Disease rs281875338 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_067770 p.Ile79Met Disease rs281875297 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q76LX8 non-pleiotropic VAR_027125 p.Arg625His Non-Disease rs36090624 0.0216 -
Q76LX8 non-pleiotropic VAR_067787 p.Tyr658Cys Disease rs281875335 - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
Q8TE60 non-pleiotropic VAR_057086 p.Ser1159Thr Non-Disease rs3743749 0.1676 -
Q8TE60 non-pleiotropic VAR_057085 p.Ser1080Arg Non-Disease rs35478105 0.2741 -
Q8TE60 non-pleiotropic VAR_057084 p.Ala946Ser Non-Disease rs12935394 0.124 -
Q8TE60 non-pleiotropic VAR_070850 p.Cys577Trp Disease - - Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
Q8TE60 non-pleiotropic VAR_060231 p.Tyr191His Non-Disease rs11643211 0.365 -
Q8TE60 non-pleiotropic VAR_060232 p.Leu626Ile Non-Disease rs11640912 0.4747 -
Q8TE60 non-pleiotropic VAR_070849 p.Leu202Pro Disease - - Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
Q8TE60 non-pleiotropic VAR_057083 p.Leu769Ile Non-Disease rs9930984 0.3829 -
Q8TE60 non-pleiotropic VAR_066554 p.Ser179Leu Non-Disease rs387906972 - -
Q86TH1 non-pleiotropic VAR_046011 p.Val364Ile Non-Disease rs35767802 - -
Q86TH1 non-pleiotropic VAR_066552 p.Ser635Leu Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_054875 p.Glu114Lys Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066543 p.Trp50Cys Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066547 p.Cys171Arg Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066548 p.Arg221Cys Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_054876 p.Pro147Leu Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_054877 p.Gly811Arg Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066545 p.Arg159Trp Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066544 p.Arg72Gln Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066546 p.Ala165Thr Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_054874 p.Arg113His Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066549 p.Ala239Thr Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066551 p.Arg593Cys Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
Q86TH1 non-pleiotropic VAR_066553 p.Pro906Leu Disease - - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]