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
Disease name
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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 59 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P48643 non-pleiotropic VAR_052267 p.Glu146Val Non-Disease rs11557652 0.0115 -
Q9UJ71 non-pleiotropic VAR_054783 p.Val278Ala Non-Disease rs741326 0.461 -
Q9UJ71 non-pleiotropic VAR_054782 p.Pro213Ser Non-Disease rs17006436 0.0262 -
Q9UJ71 non-pleiotropic VAR_056151 p.Gln136Glu Non-Disease rs17718987 0.1534 -
Q9UJ71 non-pleiotropic VAR_054784 p.Asn288Asp Non-Disease rs13383830 0.1065 -
Q9UJ71 non-pleiotropic VAR_059448 p.Ala300Pro Non-Disease rs2080391 0.0018 -
Q9UJ71 non-pleiotropic VAR_054781 p.Ala55Val Non-Disease rs10489990 0.2952 -
Q9UJ71 non-pleiotropic VAR_063828 p.Trp264Arg Disease - - Birbeck granule deficiency (BIRGD) [MIM:613393]
P26842 non-pleiotropic VAR_069793 p.Cys53Tyr Disease - - Lymphoproliferative syndrome 2 (LPFS2) [MIM:615122]
P26842 non-pleiotropic VAR_016148 p.Ala59Thr Non-Disease rs25680 0.1217 -
P26842 non-pleiotropic VAR_052348 p.His233Arg Non-Disease rs2532502 0.0032 -
P25942 non-pleiotropic VAR_013628 p.Cys83Arg Disease rs28931586 - Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843]
P25942 non-pleiotropic VAR_018751 p.Ser124Leu Non-Disease rs11569321 0.0321 -
P25942 non-pleiotropic VAR_018752 p.Pro227Ala Non-Disease rs11086998 0.0211 -
P29965 non-pleiotropic VAR_007513 p.Met36Arg Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017929 p.Gly116Arg Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007523 p.Gly219Arg Non-Disease rs148594123 0.0085 -
P29965 non-pleiotropic VAR_007518 p.Trp140Gly Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017934 p.Thr176Ile Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017924 p.Leu258Ser Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007519 p.Trp140Arg Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007522 p.Thr211Asn Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017936 p.Ala208Asp Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017926 p.His125Arg Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017939 p.Val237Glu Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017937 p.His224Tyr Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017938 p.Gly226Ala Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007524 p.Gly227Val Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007515 p.Val126Ala Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017935 p.Leu195Pro Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007528 p.Thr254Met Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017925 p.Gly38Arg Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017922 p.Thr147Asn Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017923 p.Tyr170Cys Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017932 p.Lys143Thr Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007527 p.Ala235Pro Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007517 p.Trp140Cys Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017928 p.Gly257Ser Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007520 p.Gly144Glu Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017931 p.Val126Asp Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007514 p.Ala123Glu Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007526 p.Leu231Ser Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017933 p.Ala173Asp Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017940 p.Gly257Asp Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_007521 p.Leu155Pro Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017930 p.Gly116Ser Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P29965 non-pleiotropic VAR_017927 p.Gln174Arg Disease - - X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]
P15529 non-pleiotropic VAR_063658 p.Pro231Arg Disease - - Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
P15529 non-pleiotropic VAR_063656 p.Cys35Tyr Disease - - Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922]
P15529 non-pleiotropic VAR_026568 p.Arg59Gln Non-Disease - - -