rs113090017, NR1H4

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Progressive intrahepatic cholestasis (disorder)
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
10 0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 0.700 1.000 2 2012 2016
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
CUI: C4310747
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
2 0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
Ascites
CUI: C0003962
Disease: Ascites
7 0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2012 2012
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2012 2012