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 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] |