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
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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 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]