rs11887534, ABCG5;ABCG8

N. diseases: 29
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 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.800 1.000 17 2007 2018
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
62 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.800 1.000 11 2007 2018
Biliary calculi
CUI: C0242216
Disease: Biliary calculi
31 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.700 1.000 4 2007 2019
Cholesterol gallstones
CUI: C0856727
Disease: Cholesterol gallstones
12 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.030 1.000 3 2010 2014
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
11 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2011 2011
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 0.500 2 2008 2009
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 0.500 2 2009 2010
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
75 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
Gerstmann-Straussler-Scheinker Disease
39 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2010 2019
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2004 2008
Malignant neoplasm of gallbladder
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
81 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
Massive Osteolyses
CUI: C0029438
Disease: Massive Osteolyses
11 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2010 2019
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
56 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
Stage IIA Gallbladder Cancer AJCC v8
56 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
Stage IIB Gallbladder Cancer AJCC v8
56 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
Stage III Gallbladder Cancer AJCC v8
56 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
Stage IV Gallbladder Cancer AJCC v8
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
56 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2009 2011
Bile duct carcinoma
CUI: C0740277
Disease: Bile duct carcinoma
10 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2011 2011
C-reactive protein measurement
CUI: C0201657
Disease: C-reactive protein measurement
624 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.700 1.000 1 2016 2016
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
43 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2011 2011
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2010 2010
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2010 2010
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
238 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2015 2015
Familial hypercholesterolemia - heterozygous
34 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2009 2009
Insulin resistance syndrome
CUI: C3714619
Disease: Insulin resistance syndrome
15 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2004 2004