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 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 | - | - | - |