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 268 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P26367 | pleiotropic | VAR_008704 | p.Ser119Arg | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_003809 | p.Gly18Trp | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_047863 | p.Ile56Thr | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_003808 | p.Asn17Ser | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_008694 | p.Ile29Ser | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_003810 | p.Arg26Gly | Disease | - | - | Peters anomaly (PETAN) [MIM:604229] |
P26367 | pleiotropic | VAR_003816 | p.Arg208Trp | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_008708 | p.Gln422Arg | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_017547 | p.Thr391Ala | Disease | - | - | Bilateral optic nerve hypoplasia (BONH) [MIM:165550] |
P26367 | pleiotropic | VAR_008697 | p.Ile42Ser | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_008701 | p.Thr63Pro | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_047860 | p.Arg19Pro | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_003814 | p.Arg128Cys | Disease | - | - | Foveal hypoplasia 1 (FVH1) [MIM:136520] |
P26367 | pleiotropic | VAR_017543 | p.Ser292Ile | Disease | - | - | Bilateral optic nerve hypoplasia (BONH) [MIM:165550] |
P26367 | pleiotropic | VAR_015066 | p.Pro375Gln | Disease | rs200015827 | 0.0002 | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_067698 | p.Gly395Arg | Disease | - | - | Aniridia (AN) [MIM:106210] |
Q06710 | non-pleiotropic | VAR_012773 | p.Phe329Leu | Non-Disease | rs3188996 | 0.0064 | - |
Q06710 | non-pleiotropic | VAR_012769 | p.Arg31His | Disease | - | - | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] |
Q06710 | non-pleiotropic | VAR_012772 | p.Leu62Arg | Disease | - | - | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] |
Q06710 | non-pleiotropic | VAR_012771 | p.Cys57Tyr | Disease | - | - | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] |
Q06710 | non-pleiotropic | VAR_012770 | p.Gln40Pro | Disease | - | - | Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700] |
P55771 | non-pleiotropic | VAR_034371 | p.Ala240Pro | Non-Disease | rs4904210 | 0.343 | - |
P55771 | non-pleiotropic | VAR_015698 | p.Gly51Ser | Disease | - | - | Tooth agenesis selective 3 (STHAG3) [MIM:604625] |
P11498 | non-pleiotropic | VAR_015199 | p.Val145Ala | Disease | rs28940591 | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P11498 | non-pleiotropic | VAR_015200 | p.Arg451Cys | Disease | - | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P11498 | non-pleiotropic | VAR_058958 | p.Arg270Trp | Disease | - | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P11498 | non-pleiotropic | VAR_058960 | p.Arg583Leu | Disease | - | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P11498 | non-pleiotropic | VAR_058961 | p.Arg631Gln | Disease | - | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P11498 | non-pleiotropic | VAR_048416 | p.His76Leu | Non-Disease | rs7104156 | - | - |
P11498 | non-pleiotropic | VAR_008096 | p.Met743Ile | Disease | rs28940590 | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P11498 | non-pleiotropic | VAR_058959 | p.Tyr304Cys | Disease | - | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P11498 | non-pleiotropic | VAR_058957 | p.Arg156Gln | Disease | - | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P11498 | non-pleiotropic | VAR_008095 | p.Ala610Thr | Disease | rs28940589 | - | Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150] |
P61457 | non-pleiotropic | VAR_005530 | p.Glu97Lys | Disease | - | - | Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] |
P61457 | non-pleiotropic | VAR_005529 | p.Arg88Gln | Disease | rs115117837 | 0.001 | Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] |
P61457 | non-pleiotropic | VAR_005528 | p.Cys82Arg | Disease | - | - | Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070] |
P05165 | non-pleiotropic | VAR_009101 | p.Gly668Arg | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_023846 | p.Val551Phe | Non-Disease | rs61749895 | 0.0032 | - |
P05165 | non-pleiotropic | VAR_009092 | p.Gln297Arg | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009091 | p.Met229Lys | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009096 | p.Arg399Gln | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009098 | p.Ile475Val | Non-Disease | rs35719359 | 0.0243 | - |
P05165 | non-pleiotropic | VAR_009090 | p.Ile164Thr | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009097 | p.Pro423Leu | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009088 | p.Arg77Trp | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009100 | p.Gly631Arg | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009095 | p.Gly379Val | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009099 | p.Trp559Leu | Disease | rs118169528 | 0.0052 | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_023843 | p.Gly197Glu | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009089 | p.Ala138Thr | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |