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 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]