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 205 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q969F8 | pleiotropic | VAR_021395 | p.Leu364His | Non-Disease | rs350132 | 0.2323 | - |
P10721 | pleiotropic | VAR_033131 | p.Leu656Pro | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_004106 | p.Gly664Arg | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_033123 | p.Lys550Ile | Disease | rs28933968 | - | Gastrointestinal stromal tumor (GIST) [MIM:606764] |
P10721 | pleiotropic | VAR_061289 | p.Met541Val | Non-Disease | rs3822214 | 0.0645 | - |
P10721 | pleiotropic | VAR_033129 | p.Phe584Cys | Disease | rs28933371 | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_033132 | p.Arg796Gly | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_042023 | p.Cys691Ser | Non-Disease | rs35200131 | - | - |
P10721 | pleiotropic | VAR_033127 | p.Val559Asp | Disease | - | - | Gastrointestinal stromal tumor (GIST) [MIM:606764] |
P10721 | pleiotropic | VAR_042021 | p.Val532Ile | Non-Disease | rs55792975 | - | - |
P10721 | pleiotropic | VAR_042022 | p.Met541Leu | Non-Disease | rs3822214 | 0.0638 | - |
P10721 | pleiotropic | VAR_004107 | p.Arg791Gly | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_033130 | p.Gly601Arg | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_004105 | p.Phe584Leu | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_042024 | p.Ser715Asn | Non-Disease | rs56094246 | - | - |
P10721 | pleiotropic | VAR_004108 | p.Gly812Val | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_004104 | p.Glu583Lys | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_033137 | p.Thr847Pro | Disease | - | - | Piebald trait (PBT) [MIM:172800] |
P10721 | pleiotropic | VAR_033126 | p.Val559Ala | Disease | - | - | Gastrointestinal stromal tumor (GIST) [MIM:606764] |
Q9UEF7 | non-pleiotropic | VAR_023583 | p.Phe45Val | Non-Disease | rs1052019 | - | - |
Q9UEF7 | non-pleiotropic | VAR_064554 | p.His193Arg | Disease | - | - | Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900] |
Q9UEF7 | non-pleiotropic | VAR_023582 | p.Pro15Gln | Non-Disease | rs1052018 | - | - |
Q9UEF7 | non-pleiotropic | VAR_023584 | p.Phe352Val | Non-Disease | rs9536314 | 0.1304 | - |
Q9UEF7 | non-pleiotropic | VAR_023585 | p.Cys370Ser | Non-Disease | rs9527025 | 0.1304 | - |
Q9UEF7 | non-pleiotropic | VAR_049295 | p.Pro514Ser | Non-Disease | rs3752472 | 0.0367 | - |
O14901 | non-pleiotropic | VAR_031522 | p.Gln62Arg | Non-Disease | rs35927125 | 0.0634 | - |
O14901 | non-pleiotropic | VAR_052717 | p.Ser378Phe | Non-Disease | rs35476458 | - | - |
O14901 | non-pleiotropic | VAR_031524 | p.Ala347Ser | Disease | - | - | Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508] |
O14901 | non-pleiotropic | VAR_031523 | p.Thr220Met | Disease | rs34336420 | 0.0124 | Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508] |
Q6JEL2 | non-pleiotropic | VAR_069358 | p.Ala313Thr | Disease | - | - | Spermatogenic failure 11 (SPGF11) [MIM:615081] |
Q6JEL2 | non-pleiotropic | VAR_069357 | p.Gln216Pro | Disease | - | - | Spermatogenic failure 11 (SPGF11) [MIM:615081] |
Q9UH77 | non-pleiotropic | VAR_067507 | p.Phe322Cys | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067514 | p.Leu387Pro | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067506 | p.Gln309Arg | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067508 | p.Arg336Ile | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067529 | p.Asn529Lys | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067521 | p.Ser433Gly | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067530 | p.Tyr557Cys | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067519 | p.Arg431Gln | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067527 | p.Arg528Cys | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067509 | p.Ala340Val | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067504 | p.Cys164Phe | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067513 | p.Arg384Trp | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067510 | p.Val361Met | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067528 | p.Arg528His | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067517 | p.Pro426Leu | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067511 | p.Arg362Trp | Disease | rs200892557 | 0.0002 | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067531 | p.Arg575Trp | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067516 | p.Ser410Leu | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067502 | p.Met78Val | Disease | rs199469624 | 0.0002 | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |