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 182 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q86XE5 | non-pleiotropic | VAR_064035 | p.Cys257Gly | Disease | - | - | Hyperoxaluria primary 3 (HP3) [MIM:613616] |
Q86XE5 | non-pleiotropic | VAR_064036 | p.Gly287Val | Disease | - | - | Hyperoxaluria primary 3 (HP3) [MIM:613616] |
P31271 | pleiotropic | VAR_017776 | p.Asn372His | Disease | - | - | Hand-foot-genital syndrome (HFG) [MIM:140000] |
P31271 | pleiotropic | VAR_017775 | p.Gln371Leu | Disease | - | - | Guttmacher syndrome (GUTTS) [MIM:176305] |
O43364 | non-pleiotropic | VAR_011880 | p.Met196Leu | Non-Disease | rs941002 | - | - |
O43364 | non-pleiotropic | VAR_048023 | p.Gln186Lys | Disease | - | - | Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290] |
P14653 | non-pleiotropic | VAR_068723 | p.Arg207Cys | Disease | - | - | Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744] |
P14653 | non-pleiotropic | VAR_058129 | p.Glu265Gly | Non-Disease | rs7226137 | 0.0129 | - |
P14653 | non-pleiotropic | VAR_055959 | p.Thr71Asn | Non-Disease | rs35254561 | - | - |
P14653 | non-pleiotropic | VAR_055960 | p.Gln103His | Non-Disease | rs12939811 | 0.1139 | - |
P35453 | pleiotropic | VAR_031651 | p.Arg306Trp | Disease | rs28933082 | - | Synpolydactyly 1 (SPD1) [MIM:186000] |
P35453 | pleiotropic | VAR_031650 | p.Ser252Ala | Non-Disease | rs35290213 | - | - |
P35453 | pleiotropic | VAR_015952 | p.Ser316Cys | Disease | rs28928892 | - | Brachydactyly D (BDD) [MIM:113200] Brachydactyly E1 (BDE1) [MIM:113300] |
P35453 | pleiotropic | VAR_031652 | p.Gln325Arg | Disease | - | - | Syndactyly 5 (SDTY5) [MIM:186300] |
P35453 | pleiotropic | VAR_015953 | p.Ile322Leu | Disease | rs28928891 | - | Brachydactyly E1 (BDE1) [MIM:113300] |
P15428 | pleiotropic | VAR_046209 | p.Ala140Pro | Disease | - | - | Cranioosteoarthropathy (COA) [MIM:259100] |
P15428 | pleiotropic | VAR_006972 | p.Tyr217Cys | Non-Disease | - | - | - |
P15428 | pleiotropic | VAR_060792 | p.Ser193Pro | Disease | - | - | Isolated congenital nail clubbing (ICNC) [MIM:119900] |
Q969F9 | non-pleiotropic | VAR_038379 | p.Glu275Lys | Non-Disease | rs34388030 | 0.0069 | - |
Q969F9 | non-pleiotropic | VAR_013251 | p.Arg397Trp | Disease | - | - | Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072] |
Q9UPZ3 | non-pleiotropic | VAR_062286 | p.Thr1098Ile | Disease | rs61884288 | 0.0104 | Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074] |
Q9UPZ3 | non-pleiotropic | VAR_062285 | p.Leu624Arg | Disease | - | - | Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074] |
Q9UPZ3 | non-pleiotropic | VAR_015513 | p.Leu417Met | Non-Disease | rs7128017 | 0.141 | - |
P01112 | pleiotropic | VAR_026106 | p.Gly12Ala | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_068817 | p.Gly13Arg | Disease | - | - | Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] |
P01112 | pleiotropic | VAR_045976 | p.Gly12Glu | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_026108 | p.Gly13Asp | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_006836 | p.Gly12Val | Disease | - | - | Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_006837 | p.Gly12Ser | Disease | - | - | Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_026107 | p.Gly13Cys | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_045982 | p.Ala146Thr | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_045977 | p.Gln22Lys | Disease | - | - | Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] |
P01112 | pleiotropic | VAR_045975 | p.Gly12Cys | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_045983 | p.Ala146Val | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_045978 | p.Thr58Ile | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_045981 | p.Lys117Arg | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_068816 | p.Gly12Asp | Disease | - | - | Faciocutaneoskeletal syndrome (FCSS) [MIM:218040] |
P01112 | pleiotropic | VAR_045980 | p.Glu63Lys | Disease | - | - | Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] |
O60243 | non-pleiotropic | VAR_069287 | p.Met404Val | Disease | - | - | Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] |
O60243 | non-pleiotropic | VAR_069284 | p.Arg306Trp | Disease | - | - | Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] |
O60243 | non-pleiotropic | VAR_069286 | p.Arg382Trp | Disease | - | - | Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] |
O60243 | non-pleiotropic | VAR_069285 | p.Arg323Gln | Disease | - | - | Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] |
O60243 | non-pleiotropic | VAR_069283 | p.Arg306Gln | Disease | - | - | Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] |
P80365 | non-pleiotropic | VAR_015644 | p.Arg279Cys | Disease | - | - | Apparent mineralocorticoid excess (AME) [MIM:218030] |
P80365 | non-pleiotropic | VAR_006959 | p.Arg213Cys | Disease | - | - | Apparent mineralocorticoid excess (AME) [MIM:218030] |
P80365 | non-pleiotropic | VAR_015645 | p.Ala328Val | Disease | - | - | Apparent mineralocorticoid excess (AME) [MIM:218030] |
P80365 | non-pleiotropic | VAR_015637 | p.Arg186Cys | Disease | - | - | Apparent mineralocorticoid excess (AME) [MIM:218030] |
P80365 | non-pleiotropic | VAR_015641 | p.Asp244Asn | Disease | - | - | Apparent mineralocorticoid excess (AME) [MIM:218030] |
P80365 | non-pleiotropic | VAR_006958 | p.Arg208Cys | Disease | - | - | Apparent mineralocorticoid excess (AME) [MIM:218030] |
P80365 | non-pleiotropic | VAR_066514 | p.Asp223Asn | Disease | - | - | Apparent mineralocorticoid excess (AME) [MIM:218030] |