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 191 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q96PD4 | non-pleiotropic | VAR_058289 | p.His161Arg | Non-Disease | rs763780 | 0.0799 | - |
Q96PD4 | non-pleiotropic | VAR_065813 | p.Ser95Leu | Disease | - | - | Candidiasis, familial, 6 (CANDF6) [MIM:613956] |
Q8NFM7 | non-pleiotropic | VAR_069939 | p.Tyr379Cys | Disease | rs369641068 | - | Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] |
Q8NFM7 | non-pleiotropic | VAR_023478 | p.Thr255Met | Non-Disease | rs6780995 | 0.4982 | - |
Q8NFM7 | non-pleiotropic | VAR_069942 | p.Ala735Val | Disease | - | - | Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] |
Q8NFM7 | non-pleiotropic | VAR_069940 | p.Ser468Leu | Disease | - | - | Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] |
Q8NFM7 | non-pleiotropic | VAR_069941 | p.Pro577Gln | Disease | - | - | Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] |
Q8NFM7 | non-pleiotropic | VAR_023479 | p.Val301Met | Non-Disease | rs17057718 | 0.2089 | - |
Q8NFM7 | non-pleiotropic | VAR_069937 | p.Lys162Arg | Disease | - | - | Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] |
Q8NFM7 | non-pleiotropic | VAR_069938 | p.Pro306Ser | Disease | - | - | Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] |
Q8NFM7 | non-pleiotropic | VAR_069936 | p.Lys131Thr | Disease | rs184758350 | 0.001 | Hypogonadotropic hypogonadism 18 with or without anosmia (HH18) [MIM:615267] |
Q8NI17 | non-pleiotropic | VAR_065809 | p.Ser489Phe | Disease | - | - | Amyloidosis, primary localized cutaneous, 2 (PLCA2) [MIM:613955] |
Q8NI17 | non-pleiotropic | VAR_030329 | p.Ser497Asn | Non-Disease | rs161704 | 0.3099 | - |
Q8NI17 | non-pleiotropic | VAR_030328 | p.Asp155Asn | Non-Disease | rs13184107 | 0.01 | - |
Q9UBH0 | non-pleiotropic | VAR_066647 | p.Arg48Trp | Disease | - | - | Psoriasis generalized pustular (PSORP) [MIM:614204] |
Q9UBH0 | non-pleiotropic | VAR_023239 | p.Asn47Ser | Non-Disease | rs28938777 | 0.0147 | - |
Q9UBH0 | non-pleiotropic | VAR_066648 | p.Ser113Leu | Disease | rs144478519 | 0.0016 | Psoriasis generalized pustular (PSORP) [MIM:614204] |
Q9UBH0 | non-pleiotropic | VAR_068972 | p.Thr123Arg | Disease | - | - | Psoriasis generalized pustular (PSORP) [MIM:614204] |
Q9UBH0 | non-pleiotropic | VAR_066646 | p.Leu27Pro | Disease | - | - | Psoriasis generalized pustular (PSORP) [MIM:614204] |
Q86SU0 | non-pleiotropic | VAR_065352 | p.Arg97Gln | Disease | - | - | Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646] |
Q86SU0 | non-pleiotropic | VAR_065354 | p.Arg463Cys | Non-Disease | - | - | - |
Q9NX62 | non-pleiotropic | VAR_065848 | p.Thr183Pro | Disease | - | - | Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078] |
Q9NX62 | non-pleiotropic | VAR_065847 | p.Asp177Asn | Disease | - | - | Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078] |
Q9UK53 | non-pleiotropic | VAR_017421 | p.Cys358Ser | Disease | - | - | Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] |
Q9UK53 | non-pleiotropic | VAR_017422 | p.Asn359Ser | Disease | - | - | Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] |
Q9UK53 | non-pleiotropic | VAR_017420 | p.Ala335Asp | Disease | - | - | Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] |
Q9UK53 | non-pleiotropic | VAR_047097 | p.Leu125Arg | Non-Disease | rs7338333 | 0.0 | - |
Q9NXR8 | non-pleiotropic | VAR_021263 | p.Asp20Gly | Disease | - | - | Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355] |
O15357 | non-pleiotropic | VAR_034982 | p.Asn982Ser | Non-Disease | rs70940821 | 0.0009 | - |
O15357 | non-pleiotropic | VAR_034983 | p.Ala1083Gly | Non-Disease | rs11548491 | 0.1455 | - |
O15357 | non-pleiotropic | VAR_034981 | p.Val721Met | Non-Disease | rs116848359 | 0.0005 | - |
O15357 | non-pleiotropic | VAR_069588 | p.Trp688Cys | Disease | - | - | Opsismodysplasia (OPSMD) [MIM:258480] |
O15357 | non-pleiotropic | VAR_034984 | p.Ala1114Gly | Non-Disease | rs1049472 | - | - |
O15357 | non-pleiotropic | VAR_069587 | p.Pro659Ser | Disease | - | - | Opsismodysplasia (OPSMD) [MIM:258480] |
O15357 | non-pleiotropic | VAR_069589 | p.Phe722Ile | Disease | - | - | Opsismodysplasia (OPSMD) [MIM:258480] |
O15357 | non-pleiotropic | VAR_034980 | p.Leu632Ile | Non-Disease | rs61749195 | 0.0179 | - |
O15357 | non-pleiotropic | VAR_069586 | p.Arg401Trp | Disease | - | - | Opsismodysplasia (OPSMD) [MIM:258480] |
P01308 | pleiotropic | VAR_063723 | p.Ala24Asp | Disease | rs80356663 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063738 | p.Cys96Tyr | Disease | rs80356671 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063724 | p.His29Asp | Disease | rs121908272 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063728 | p.Cys43Gly | Disease | rs80356666 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063741 | p.Tyr108Cys | Disease | rs80356672 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_003974 | p.Arg89His | Disease | rs28933985 | - | Hyperproinsulinemia, familial (FHPRI) [MIM:176730] |
P01308 | pleiotropic | VAR_003971 | p.His34Asp | Disease | - | - | Hyperproinsulinemia, familial (FHPRI) [MIM:176730] |
P01308 | pleiotropic | VAR_063732 | p.Arg55Cys | Disease | rs121908261 | - | Diabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852] |
P01308 | pleiotropic | VAR_063730 | p.Gly47Val | Disease | rs80356667 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_063722 | p.Arg6His | Disease | rs121908259 | - | Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] |
P01308 | pleiotropic | VAR_063733 | p.Leu68Met | Non-Disease | rs121908279 | - | - |
P01308 | pleiotropic | VAR_063736 | p.Gly90Cys | Disease | rs80356670 | - | Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] |
P01308 | pleiotropic | VAR_003975 | p.Arg89Leu | Disease | - | - | Hyperproinsulinemia, familial (FHPRI) [MIM:176730] |