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 7 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9H222 | non-pleiotropic | VAR_012246 | p.Arg419His | Disease | - | - | Sitosterolemia (STSL) [MIM:210250] |
Q9H222 | non-pleiotropic | VAR_012248 | p.Arg550Ser | Disease | - | - | Sitosterolemia (STSL) [MIM:210250] |
Q9H222 | non-pleiotropic | VAR_020782 | p.Ile523Val | Non-Disease | - | - | - |
Q9H222 | non-pleiotropic | VAR_012247 | p.Arg419Pro | Disease | - | - | Sitosterolemia (STSL) [MIM:210250] |
Q9H222 | non-pleiotropic | VAR_012245 | p.Arg389His | Disease | - | - | Sitosterolemia (STSL) [MIM:210250] |
Q9H222 | non-pleiotropic | VAR_048142 | p.Arg50Cys | Non-Disease | rs6756629 | 0.0739 | - |
Q9H222 | non-pleiotropic | VAR_020781 | p.Asn437Lys | Disease | - | - | Sitosterolemia (STSL) [MIM:210250] |
Q8WTS1 | non-pleiotropic | VAR_023387 | p.Glu7Lys | Disease | rs104893676 | 0.0014 | Chanarin-Dorfman syndrome (CDS) [MIM:275630] |
Q8WTS1 | non-pleiotropic | VAR_023389 | p.Glu260Lys | Disease | rs28939078 | - | Chanarin-Dorfman syndrome (CDS) [MIM:275630] |
Q8WTS1 | non-pleiotropic | VAR_023388 | p.Gln130Pro | Disease | rs28939077 | - | Chanarin-Dorfman syndrome (CDS) [MIM:275630] |
Q8WTS1 | non-pleiotropic | VAR_037574 | p.Ile72Thr | Non-Disease | rs2302349 | 0.0023 | - |
Q8WTS1 | non-pleiotropic | VAR_057954 | p.Ser115Gly | Disease | - | - | Chanarin-Dorfman syndrome (CDS) [MIM:275630] |
Q9UKU7 | non-pleiotropic | VAR_035079 | p.Gln385Arg | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
Q9UKU7 | non-pleiotropic | VAR_035077 | p.Ala320Thr | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
Q9UKU7 | non-pleiotropic | VAR_035071 | p.Met128Ile | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
Q9UKU7 | non-pleiotropic | VAR_035078 | p.Arg334Cys | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
Q9UKU7 | non-pleiotropic | VAR_035072 | p.Asp134Tyr | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
Q9UKU7 | non-pleiotropic | VAR_035075 | p.Val203Ile | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
Q9UKU7 | non-pleiotropic | VAR_035074 | p.Met152Thr | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
Q9UKU7 | non-pleiotropic | VAR_035076 | p.Arg302Gln | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
Q9UKU7 | non-pleiotropic | VAR_035073 | p.Gly137Arg | Disease | - | - | Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] |
P11310 | non-pleiotropic | VAR_000319 | p.Met149Ile | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_015956 | p.Thr121Ile | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_015957 | p.Arg206Leu | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_013700 | p.Arg281Thr | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000326 | p.Ser336Arg | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_013698 | p.Tyr67His | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_015955 | p.Cys116Tyr | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000320 | p.Thr193Ala | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000325 | p.Lys329Glu | Disease | rs77931234 | 0.001 | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000322 | p.Cys244Arg | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000317 | p.Arg53Cys | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000327 | p.Ile375Thr | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_015959 | p.Tyr352Cys | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000324 | p.Met326Thr | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000321 | p.Gly195Arg | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_015954 | p.Ile78Thr | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_015958 | p.Gly310Arg | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_000323 | p.Gly267Arg | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P11310 | non-pleiotropic | VAR_013699 | p.Ser245Leu | Disease | - | - | Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] |
P16219 | non-pleiotropic | VAR_000312 | p.Arg107Cys | Disease | - | - | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P16219 | non-pleiotropic | VAR_000311 | p.Gly92Cys | Disease | - | - | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P16219 | non-pleiotropic | VAR_033458 | p.Arg383His | Non-Disease | rs35233375 | - | - |
P16219 | non-pleiotropic | VAR_000314 | p.Trp177Arg | Disease | rs57443665 | 0.002 | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P16219 | non-pleiotropic | VAR_013571 | p.Arg380Trp | Disease | rs28940875 | - | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P16219 | non-pleiotropic | VAR_013569 | p.Arg325Trp | Disease | - | - | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P16219 | non-pleiotropic | VAR_000315 | p.Gly209Ser | Non-Disease | rs1799958 | 0.1823 | - |
P16219 | non-pleiotropic | VAR_013565 | p.Gly90Ser | Disease | - | - | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P16219 | non-pleiotropic | VAR_013570 | p.Ser353Leu | Disease | rs28941773 | - | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |
P16219 | non-pleiotropic | VAR_000310 | p.Arg46Trp | Disease | - | - | Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] |