rs4148217, ABCG8

N. diseases: 11
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.
Low density lipoprotein cholesterol measurement
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
1142 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.700 1.000 1 2012 2012
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.700 1.000 1 2012 2012
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.700 1.000 1 2012 2012
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
62 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.020 1.000 2 2007 2014
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
90 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.020 1.000 2 2007 2014
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2009 2009
Cholesterol gallstones
CUI: C0856727
Disease: Cholesterol gallstones
12 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2010 2010
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2009 2009
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
39 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2010 2010
Malignant neoplasm of gallbladder
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
81 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2011 2011
Massive Osteolyses
CUI: C0029438
Disease: Massive Osteolyses
11 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2010 2010