Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.800 1.000 16 2007 2018
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
0.800 1.000 10 2007 2018
dbSNP: rs4245791
rs4245791
0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.710 1.000 1 2007 2016
dbSNP: rs4299376
rs4299376
0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.710 1.000 1 2015 2018
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones
0.030 1.000 3 2010 2014
dbSNP: rs4148211
rs4148211
0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.030 1.000 3 2007 2014
dbSNP: rs4148211
rs4148211
0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
0.030 1.000 3 2007 2014
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer
0.020 1.000 2 2011 2011
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
Gerstmann-Straussler-Scheinker Disease
0.020 1.000 2 2010 2019
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.020 1.000 2 2004 2008
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses
0.020 1.000 2 2010 2019
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
Stage IIB Gallbladder Cancer AJCC v8
0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
Stage III Gallbladder Cancer AJCC v8
0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
Stage IIA Gallbladder Cancer AJCC v8
0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.020 0.500 2 2008 2009
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 0.500 2 2009 2010
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
0.020 1.000 2 2009 2011
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
0.020 1.000 2 2009 2011
dbSNP: rs4148217
rs4148217
0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
0.020 1.000 2 2007 2014
dbSNP: rs4148217
rs4148217
0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.020 1.000 2 2007 2014
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 1.000 1 2004 2004
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
0.010 1.000 1 2004 2004
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
Low phospholipid-associated cholelithiasis
0.010 1.000 1 2014 2014