rs2230028, ABCB4

N. diseases: 5
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.
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
90 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2010 2010
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2009 2009
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
24 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2009 2009
Cholesterol gallstones
CUI: C0856727
Disease: Cholesterol gallstones
12 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2010 2010
Intrahepatic Cholestasis
CUI: C0008372
Disease: Intrahepatic Cholestasis
3 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2009 2009