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 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]