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 42 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P35670 non-pleiotropic VAR_010015 p.Arg1038Lys Disease rs59959366 - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_067335 p.Leu549Pro Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044459 p.Ser653Tyr Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009016 p.Pro1052Leu Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000779 p.Asp1222Tyr Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044478 p.Gly1176Glu Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000719 p.Gly710Ser Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009028 p.Gly1266Arg Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_023014 p.Pro690Leu Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_058931 p.Asp1164Asn Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000748 p.Thr977Met Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009031 p.Ser1363Phe Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009012 p.Cys985Tyr Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000717 p.Leu708Pro Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000755 p.Leu1043Pro Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044481 p.Asp1222Asn Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044488 p.Tyr1331Ser Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_023011 p.Asn41Ser Disease - - Wilson disease (WD) [MIM:277900]
Q9NTI2 non-pleiotropic VAR_069928 p.Ile336Met Disease - - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268]
Q9NTI2 non-pleiotropic VAR_055543 p.Ala1029Thr Non-Disease rs2296242 0.0006 -
O43520 pleiotropic VAR_043062 p.Ser580Asn Non-Disease rs33963153 0.0161 -
O43520 pleiotropic VAR_043059 p.Tyr500His Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043053 p.Ser403Tyr Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_008813 p.Gly892Arg Disease - - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_071046 p.Ser1012Ile Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043073 p.Gly1040Arg Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_071045 p.Pro209Thr Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043046 p.Leu127Pro Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043056 p.Ser453Tyr Disease - - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520 pleiotropic VAR_043066 p.Met674Thr Non-Disease rs35470719 0.0142 -
O43520 pleiotropic VAR_029273 p.Arg952Gln Non-Disease rs12968116 0.056 -
O43520 pleiotropic VAR_043055 p.Glu429Ala Non-Disease rs34018205 0.0069 -
O43520 pleiotropic VAR_029271 p.His78Gln Non-Disease rs3745079 0.0147 -
O43520 pleiotropic VAR_043072 p.Arg867Cys Disease - - Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]
O43520 pleiotropic VAR_008812 p.Ile661Thr Disease rs28939686 - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043047 p.Lys203Glu Disease rs56355310 0.0006 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]
O43520 pleiotropic VAR_043044 p.Asn45Thr Disease rs146599962 0.0016 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]
O43520 pleiotropic VAR_043065 p.Arg628Trp Disease - - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520 pleiotropic VAR_043051 p.Arg384His Non-Disease rs2271260 0.0014 -
O43520 pleiotropic VAR_008810 p.Gly308Val Disease rs28939685 - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043057 p.Asp454Gly Disease - - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520 pleiotropic VAR_055045 p.Ala1152Thr Non-Disease rs222581 0.0005 -
O43520 pleiotropic VAR_043061 p.His535Leu Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043048 p.Phe305Ile Non-Disease rs150860808 0.0014 -
O43520 pleiotropic VAR_008809 p.Leu288Ser Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043064 p.Arg600Trp Disease - - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520 pleiotropic VAR_043069 p.Gly733Arg Disease - - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]
O43520 pleiotropic VAR_043049 p.Gly308Asp Disease rs28939685 - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520 pleiotropic VAR_043063 p.Arg600Gln Disease - - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]
O43520 pleiotropic VAR_043052 p.Ile393Val Non-Disease rs34315917 0.006 -