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 117 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9NQT5 | non-pleiotropic | VAR_068505 | p.Gly31Ala | Disease | - | - | Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] |
Q9NQT5 | non-pleiotropic | VAR_054098 | p.Tyr225His | Non-Disease | rs3208406 | 0.0459 | - |
Q9NQT5 | non-pleiotropic | VAR_068507 | p.Ala139Pro | Disease | - | - | Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] |
Q9NQT5 | non-pleiotropic | VAR_068506 | p.Asp132Ala | Disease | rs141138948 | - | Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] |
Q93063 | non-pleiotropic | VAR_012825 | p.Arg179Ser | Disease | - | - | Hereditary multiple exostoses 2 (EXT2) [MIM:133701] |
Q93063 | non-pleiotropic | VAR_033921 | p.Met42Val | Non-Disease | rs4755779 | 0.011 | - |
Q93063 | non-pleiotropic | VAR_002378 | p.Asp227Asn | Disease | - | - | Hereditary multiple exostoses 2 (EXT2) [MIM:133701] |
Q93063 | non-pleiotropic | VAR_012824 | p.Leu152Arg | Disease | - | - | Hereditary multiple exostoses 2 (EXT2) [MIM:133701] |
Q93063 | non-pleiotropic | VAR_012828 | p.Ile380Thr | Disease | - | - | Hereditary multiple exostoses 2 (EXT2) [MIM:133701] |
Q93063 | non-pleiotropic | VAR_012823 | p.Cys85Arg | Disease | - | - | Hereditary multiple exostoses 2 (EXT2) [MIM:133701] |
Q93063 | non-pleiotropic | VAR_012827 | p.Arg223Pro | Disease | - | - | Hereditary multiple exostoses 2 (EXT2) [MIM:133701] |
Q93063 | non-pleiotropic | VAR_012826 | p.Ala202Val | Disease | - | - | Hereditary multiple exostoses 2 (EXT2) [MIM:133701] |
Q5T1H1 | non-pleiotropic | VAR_064418 | p.Gly2017Val | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063466 | p.Pro1739Leu | Non-Disease | - | - | - |
Q5T1H1 | non-pleiotropic | VAR_063458 | p.Lys1365Glu | Non-Disease | rs16895519 | 0.0083 | - |
Q5T1H1 | non-pleiotropic | VAR_063467 | p.Glu1747Gly | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063480 | p.Leu2189Pro | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063446 | p.Gly631Ser | Non-Disease | rs9342464 | 0.3944 | - |
Q5T1H1 | non-pleiotropic | VAR_035301 | p.Thr120Met | Non-Disease | rs12193967 | 0.1846 | - |
Q5T1H1 | non-pleiotropic | VAR_063457 | p.Ile1361Val | Non-Disease | rs17403955 | 0.0996 | - |
Q5T1H1 | non-pleiotropic | VAR_063454 | p.Ile1232Phe | Disease | rs190009374 | 0.001 | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063469 | p.Trp1837Ser | Non-Disease | - | - | - |
Q5T1H1 | non-pleiotropic | VAR_043561 | p.Leu852Pro | Non-Disease | rs9294631 | 0.3889 | - |
Q5T1H1 | non-pleiotropic | VAR_063478 | p.Cys2139Tyr | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063443 | p.Arg551Leu | Non-Disease | - | - | - |
Q5T1H1 | non-pleiotropic | VAR_063461 | p.Arg1515Trp | Non-Disease | rs62415827 | 0.0978 | - |
Q5T1H1 | non-pleiotropic | VAR_063455 | p.Ile1263Val | Non-Disease | - | 0.0978 | - |
Q5T1H1 | non-pleiotropic | VAR_063488 | p.Cys2911Tyr | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063442 | p.Lys532Asn | Non-Disease | rs61753611 | 0.0046 | - |
Q5T1H1 | non-pleiotropic | VAR_063450 | p.Lys938Arg | Non-Disease | - | - | - |
Q5T1H1 | non-pleiotropic | VAR_063448 | p.Asn745Ser | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063472 | p.Asn1902Ile | Non-Disease | rs9353806 | 0.3122 | - |
Q5T1H1 | non-pleiotropic | VAR_063483 | p.Ser2556Cys | Non-Disease | - | 0.1079 | - |
Q5T1H1 | non-pleiotropic | VAR_063476 | p.Ile1999Val | Non-Disease | - | - | - |
Q5T1H1 | non-pleiotropic | VAR_063452 | p.Asn1163Lys | Non-Disease | rs150951106 | 0.0032 | - |
Q5T1H1 | non-pleiotropic | VAR_063464 | p.Thr1664Ile | Non-Disease | - | - | - |
Q5T1H1 | non-pleiotropic | VAR_063479 | p.Asn2151Ser | Non-Disease | rs141603172 | 0.0055 | - |
Q5T1H1 | non-pleiotropic | VAR_063453 | p.Cys1176Arg | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063449 | p.Val834Ile | Non-Disease | rs112464110 | 0.0051 | - |
Q5T1H1 | non-pleiotropic | VAR_063440 | p.Val136Phe | Non-Disease | - | - | - |
Q5T1H1 | non-pleiotropic | VAR_063465 | p.Asp1682Tyr | Disease | rs75831552 | 0.012 | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063437 | p.Pro94Gln | Non-Disease | rs111947397 | 0.0028 | - |
Q5T1H1 | non-pleiotropic | VAR_063477 | p.Val2040Asp | Non-Disease | - | - | - |
Q5T1H1 | non-pleiotropic | VAR_063447 | p.Glu641Val | Non-Disease | rs17411795 | 0.1042 | - |
Q5T1H1 | non-pleiotropic | VAR_064420 | p.Gln2945Glu | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063460 | p.Ile1451Thr | Non-Disease | rs62415828 | 0.0987 | - |
Q5T1H1 | non-pleiotropic | VAR_063462 | p.Ser1517Gly | Non-Disease | rs62415826 | 0.0978 | - |
Q5T1H1 | non-pleiotropic | VAR_063444 | p.Gln571Arg | Non-Disease | rs61753610 | 0.1203 | - |
Q5T1H1 | non-pleiotropic | VAR_064419 | p.Glu2503Lys | Disease | - | - | Retinitis pigmentosa 25 (RP25) [MIM:602772] |
Q5T1H1 | non-pleiotropic | VAR_063482 | p.Arg2326Gln | Non-Disease | rs4710457 | 0.3485 | - |