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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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 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]