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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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 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]