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 8 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P16219 | non-pleiotropic | VAR_013567 | p.Arg171Trp | Non-Disease | rs1800556 | 0.0248 | - |
P16219 | non-pleiotropic | VAR_013568 | p.Ala192Val | Disease | rs28940874 | - | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P16219 | non-pleiotropic | VAR_000316 | p.Arg383Cys | Disease | rs28940872 | 0.0002 | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P45954 | non-pleiotropic | VAR_013010 | p.Leu255Phe | Disease | - | - | Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006] |
P45954 | non-pleiotropic | VAR_048177 | p.Arg13Lys | Non-Disease | rs12263012 | 0.2351 | - |
P45954 | non-pleiotropic | VAR_048178 | p.Ile316Val | Non-Disease | rs1131430 | 0.0496 | - |
P45954 | non-pleiotropic | VAR_048179 | p.Glu376Gly | Non-Disease | rs12357783 | - | - |
P45954 | non-pleiotropic | VAR_014749 | p.Ser209Gly | Non-Disease | rs1799823 | - | - |
P49748 | non-pleiotropic | VAR_000338 | p.Lys247Thr | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000359 | p.Arg459Trp | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000343 | p.Gly290Asp | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_010104 | p.Ala490Pro | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000353 | p.Asp405His | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000355 | p.Arg450His | Disease | rs118204016 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000361 | p.Arg469Gln | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000350 | p.Arg366His | Disease | rs112406105 | 0.0002 | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000348 | p.Met352Val | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000334 | p.Val174Met | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000352 | p.Lys382Gln | Disease | rs118204015 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000363 | p.Leu502Pro | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_048176 | p.Pro65Leu | Non-Disease | rs28934585 | 0.0308 | - |
P49748 | non-pleiotropic | VAR_000332 | p.Thr158Asn | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000336 | p.Glu218Lys | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000364 | p.Leu602Ile | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000335 | p.Gly185Ser | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_011990 | p.Ala359Ser | Non-Disease | rs1051701 | - | - |
P49748 | non-pleiotropic | VAR_000342 | p.Val283Ala | Disease | rs113994167 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000365 | p.Arg613Trp | Disease | rs118204014 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000347 | p.Val317Ala | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000356 | p.Arg453Gln | Disease | rs138058572 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_010102 | p.Lys247Glu | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000354 | p.Gly441Asp | Disease | rs2309689 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_010103 | p.Phe458Leu | Disease | rs118204017 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_029286 | p.Leu17Phe | Non-Disease | rs2230179 | 0.0174 | - |
P49748 | non-pleiotropic | VAR_000358 | p.Arg456His | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000337 | p.Leu243Arg | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000349 | p.Arg366Cys | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_010101 | p.Ala213Pro | Disease | rs140629318 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000330 | p.Gly43Asp | Non-Disease | rs2230178 | 0.0721 | - |
P49748 | non-pleiotropic | VAR_000345 | p.Lys299Asn | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000360 | p.Gly463Glu | Disease | rs200366828 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000362 | p.Arg469Trp | Disease | rs113994170 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000357 | p.Asp454Asn | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_010106 | p.Arg615Gln | Disease | rs148584617 | 0.0008 | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000344 | p.Gly294Glu | Disease | rs200573371 | 0.0002 | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000341 | p.Ala281Asp | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_010105 | p.Glu534Lys | Disease | rs2230180 | 0.0064 | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_011991 | p.Ser623Phe | Non-Disease | rs13383 | - | - |
P49748 | non-pleiotropic | VAR_000339 | p.Thr260Met | Disease | rs113994168 | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |
P49748 | non-pleiotropic | VAR_000333 | p.Gln159Arg | Disease | - | - | Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] |