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 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]