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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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 11 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P63261 pleiotropic VAR_067817 p.Thr203Lys Disease rs281875327 - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261 pleiotropic VAR_032436 p.Pro264Leu Disease - - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261 pleiotropic VAR_067814 p.Thr120Ile Disease rs281875325 - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261 pleiotropic VAR_032435 p.Lys118Met Disease - - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P12814 non-pleiotropic VAR_069914 p.Glu225Lys Disease - - Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814 non-pleiotropic VAR_069913 p.Arg197Trp Non-Disease - - -
P12814 non-pleiotropic VAR_069911 p.Arg46Gln Disease - - Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814 non-pleiotropic VAR_069912 p.Val105Ile Disease - - Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814 non-pleiotropic VAR_053884 p.Thr868Ser Non-Disease rs11557769 0.0083 -
P12814 non-pleiotropic VAR_069916 p.Arg752Gln Disease - - Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814 non-pleiotropic VAR_069915 p.Arg738Trp Disease - - Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P12814 non-pleiotropic VAR_053883 p.Asn707Thr Non-Disease rs7157661 - -
P12814 non-pleiotropic VAR_069910 p.Gln32Lys Disease - - Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
P35609 non-pleiotropic VAR_054628 p.Gln9Arg Disease rs121434525 0.0006 Cardiomyopathy, dilated 1AA (CMD1AA) [MIM:612158]
P35609 non-pleiotropic VAR_033487 p.Met604Val Non-Disease rs35997569 0.017 -
O43707 non-pleiotropic VAR_010380 p.Ser262Pro Disease rs28939376 - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707 non-pleiotropic VAR_010379 p.Thr259Ile Disease rs28939375 - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
O43707 non-pleiotropic VAR_010378 p.Lys255Glu Disease rs28939374 - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
Q04771 non-pleiotropic VAR_058419 p.Arg202Ile Disease - - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771 non-pleiotropic VAR_041393 p.Ser41Phe Non-Disease rs55957214 - -
Q04771 non-pleiotropic VAR_058423 p.Gly328Trp Disease - - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771 non-pleiotropic VAR_058425 p.Arg375Pro Disease - - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771 non-pleiotropic VAR_041394 p.His47Gln Non-Disease rs34056189 0.0005 -
Q04771 non-pleiotropic VAR_058420 p.Gln207Glu Disease - - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771 non-pleiotropic VAR_058424 p.Gly356Asp Disease - - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771 non-pleiotropic VAR_058422 p.Gly328Arg Disease - - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771 non-pleiotropic VAR_041392 p.Ala15Gly Non-Disease rs13406336 0.0032 -
Q04771 non-pleiotropic VAR_058421 p.Gly328Glu Disease - - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q04771 non-pleiotropic VAR_028444 p.Arg206His Disease - - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
Q13705 non-pleiotropic VAR_050594 p.Glu459Asp Non-Disease rs500611 - -
Q13705 non-pleiotropic VAR_041396 p.Pro176Arg Non-Disease rs35882617 - -
Q13705 non-pleiotropic VAR_013282 p.Val494Ile Disease - - Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
Q13705 non-pleiotropic VAR_013281 p.Arg40His Disease rs121434437 0.003 Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
P37023 non-pleiotropic VAR_070343 p.Arg479Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026814 p.Ala482Val Disease rs139142865 0.0002 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070328 p.Leu289Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070315 p.Asn96Ser Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070320 p.Gly219Asp Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006204 p.Trp50Cys Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070332 p.Leu342Pro Non-Disease - - -
P37023 non-pleiotropic VAR_006208 p.Asn96Asp Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006207 p.Cys77Trp Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026786 p.Arg67Trp Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026808 p.Arg411Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070324 p.Ile260Leu Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070337 p.Leu403Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026795 p.Ala306Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070341 p.Pro433Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026796 p.His314Tyr Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070338 p.Gly416Ser Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]