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 43 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O43520 | pleiotropic | VAR_029272 | p.Ile577Val | Non-Disease | rs3745078 | 0.0142 | - |
O43520 | pleiotropic | VAR_043058 | p.Thr456Met | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043068 | p.Ile694Thr | Disease | - | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] |
O43520 | pleiotropic | VAR_043067 | p.Asp688Gly | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043070 | p.Lys814Asn | Non-Disease | rs34018300 | 0.0041 | - |
O43520 | pleiotropic | VAR_015423 | p.Asp554Asn | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043050 | p.Ile344Phe | Disease | - | - | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] |
O43520 | pleiotropic | VAR_043071 | p.Phe853Ser | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
O43520 | pleiotropic | VAR_043054 | p.Arg412Pro | Disease | - | - | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] |
Q8N5M1 | non-pleiotropic | VAR_023386 | p.Trp94Arg | Disease | - | - | Mitochondrial complex V deficiency, nuclear 1 (MC5DN1) [MIM:604273] |
P46100 | pleiotropic | VAR_001235 | p.Cys1614Arg | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_016915 | p.Glu740Gly | Non-Disease | rs1051680 | - | - |
P46100 | pleiotropic | VAR_012122 | p.Val1552Phe | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001234 | p.His1609Arg | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012116 | p.Pro190Leu | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001240 | p.Arg2131Gln | Disease | - | - | Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] |
P46100 | pleiotropic | VAR_012123 | p.Leu1645Ser | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001239 | p.Tyr2084His | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001227 | p.Leu192Phe | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012126 | p.Tyr1847Cys | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001237 | p.Asn1860Ser | Non-Disease | rs45439799 | 0.0036 | - |
P46100 | pleiotropic | VAR_001229 | p.Cys220Arg | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012113 | p.Gly175Glu | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012120 | p.Gly249Cys | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012124 | p.Pro1713Ser | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012127 | p.Ile2050Thr | Disease | - | - | Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] |
P46100 | pleiotropic | VAR_001233 | p.Gly249Asp | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_055939 | p.Gln545Glu | Non-Disease | rs35738915 | 0.0073 | - |
P46100 | pleiotropic | VAR_001232 | p.Arg246Cys | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001226 | p.Pro190Ala | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_032627 | p.Arg2271Gly | Disease | - | - | Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] |
P46100 | pleiotropic | VAR_001230 | p.Trp222Ser | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_023438 | p.Gln929Glu | Non-Disease | rs3088074 | 0.4897 | - |
P46100 | pleiotropic | VAR_001236 | p.Lys1650Asn | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012119 | p.Gln219Pro | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_032625 | p.Cys220Tyr | Disease | - | - | Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] |
P46100 | pleiotropic | VAR_010914 | p.Arg246Leu | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_032626 | p.Leu409Ser | Disease | - | - | Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] |
P46100 | pleiotropic | VAR_016916 | p.Thr1621Met | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_016914 | p.Ser596Pro | Non-Disease | rs1051678 | - | - |
P46100 | pleiotropic | VAR_001238 | p.Asp2035Val | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001231 | p.Cys243Phe | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012125 | p.Arg1742Lys | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012118 | p.Val194Ile | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012115 | p.Asn179Ser | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_012117 | p.Pro190Ser | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001241 | p.Tyr2163Cys | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
P46100 | pleiotropic | VAR_001228 | p.Cys200Ser | Disease | - | - | Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] |
Q13825 | non-pleiotropic | VAR_016911 | p.Ala240Val | Disease | - | - | 3-methylglutaconic aciduria 1 (MGA1) [MIM:250950] |
P01185 | non-pleiotropic | VAR_029999 | p.Ala99Pro | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |