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 274 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P78562 | non-pleiotropic | VAR_010637 | p.Cys733Ser | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010636 | p.Phe731Tyr | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010630 | p.Gln621Arg | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006740 | p.Leu138Pro | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006744 | p.Pro534Leu | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010626 | p.Trp530Cys | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006738 | p.Cys77Ser | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006746 | p.Gly579Val | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010623 | p.Tyr317Phe | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010628 | p.Arg567Pro | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006739 | p.Cys85Tyr | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010621 | p.Leu160Arg | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010638 | p.Cys746Trp | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010618 | p.Cys85Arg | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010639 | p.Trp749Arg | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010620 | p.Cys142Phe | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010619 | p.Ser141Pro | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010627 | p.Leu555Pro | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006741 | p.Arg166Cys | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006743 | p.Met253Ile | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_006745 | p.Gly579Arg | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010634 | p.Cys693Tyr | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010629 | p.Ala573Asp | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
P78562 | non-pleiotropic | VAR_010635 | p.Ala720Thr | Disease | - | - | Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800] |
Q8IWS0 | non-pleiotropic | VAR_017634 | p.Cys99Phe | Disease | - | - | Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] |
Q8IWS0 | non-pleiotropic | VAR_017635 | p.His229Arg | Disease | - | - | Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] |
Q8IWS0 | non-pleiotropic | VAR_017633 | p.Cys45Tyr | Disease | rs28935179 | - | Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] |
Q8IWS0 | non-pleiotropic | VAR_017636 | p.Lys234Glu | Disease | - | - | Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] |
Q8IWS0 | non-pleiotropic | VAR_017637 | p.Arg257Gly | Disease | - | - | Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] |
Q9UPP1 | non-pleiotropic | VAR_062250 | p.Phe315Ser | Disease | - | - | Mental retardation, X-linked, syndromic, Siderius type (MRXSSD) [MIM:300263] |
O43175 | non-pleiotropic | VAR_013461 | p.Val425Met | Disease | - | - | Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] |
O43175 | non-pleiotropic | VAR_059030 | p.Val490Met | Disease | rs121907987 | - | Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] |
O43175 | non-pleiotropic | VAR_059028 | p.Ala373Thr | Disease | - | - | Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] |
O43175 | non-pleiotropic | VAR_059026 | p.Arg135Trp | Disease | - | - | Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] |
O43175 | non-pleiotropic | VAR_059029 | p.Gly377Ser | Disease | - | - | Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] |
O43175 | non-pleiotropic | VAR_059027 | p.Val261Met | Disease | - | - | Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815] |
P46020 | non-pleiotropic | VAR_020856 | p.Asp299Val | Disease | - | - | Glycogen storage disease 9D (GSD9D) [MIM:300559] |
Q93100 | non-pleiotropic | VAR_034056 | p.Glu820Val | Non-Disease | rs9934849 | 0.0032 | - |
Q93100 | non-pleiotropic | VAR_015536 | p.Ala118Pro | Disease | - | - | Glycogen storage disease 9B (GSD9B) [MIM:261750] |
Q93100 | non-pleiotropic | VAR_006187 | p.Tyr770Cys | Non-Disease | rs16945474 | 0.0588 | - |
Q93100 | non-pleiotropic | VAR_020857 | p.Gln657Lys | Non-Disease | rs34667348 | 0.0014 | - |
P15735 | non-pleiotropic | VAR_020854 | p.Glu157Lys | Disease | - | - | Glycogen storage disease 9C (GSD9C) [MIM:613027] |
P15735 | non-pleiotropic | VAR_040996 | p.Ala317Thr | Non-Disease | - | - | - |
P15735 | non-pleiotropic | VAR_009517 | p.Val106Glu | Disease | - | - | Glycogen storage disease 9C (GSD9C) [MIM:613027] |
P15735 | non-pleiotropic | VAR_009518 | p.Gly189Glu | Disease | - | - | Glycogen storage disease 9C (GSD9C) [MIM:613027] |
P15735 | non-pleiotropic | VAR_051658 | p.Glu247Gly | Non-Disease | rs34006569 | - | - |
P15735 | non-pleiotropic | VAR_020855 | p.Asp215Asn | Disease | - | - | Glycogen storage disease 9C (GSD9C) [MIM:613027] |
O14813 | non-pleiotropic | VAR_019014 | p.Ala72Val | Disease | - | - | Congenital fibrosis of extraocular muscles 2 (CFEOM2) [MIM:602078] |
Q99453 | non-pleiotropic | VAR_026970 | p.Arg141Gly | Non-Disease | rs28939716 | - | - |
Q99453 | non-pleiotropic | VAR_046900 | p.Arg141Gln | Disease | - | - | Congenital central hypoventilation syndrome (CCHS) [MIM:209880] |