rs2287622, ABCB11

N. diseases: 16
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.
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
24 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.050 0.800 5 2006 2019
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.030 0.667 3 2007 2011
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.030 1.000 3 2011 2018
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
90 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2010 2014
Cholesterol gallstones
CUI: C0856727
Disease: Cholesterol gallstones
12 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2010 2014
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2012
Drug-Induced Liver Disease
CUI: C0860207
Disease: Drug-Induced Liver Disease
29 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2013 2019
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
80 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2017
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2012
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
43 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2011 2011
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
62 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2014 2014
Chronic hepatitis C genotype 4
CUI: C4049431
Disease: Chronic hepatitis C genotype 4
3 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2018 2018
Low phospholipid-associated cholelithiasis
29 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2014 2014
Pseudohyperkalemia Cardiff
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
60 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2018 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.700 1.000 1 2017 2017
Virus Diseases
CUI: C0042769
Disease: Virus Diseases
42 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2017 2017