Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1014715108
rs1014715108
1.000 0.120 2 43824350 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
Familial hypercholesterolemia - heterozygous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2010 2010
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
Nutritional and Metabolic Diseases 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
Digestive System Diseases 0.010 1.000 1 2014 2014
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
Nutritional and Metabolic Diseases 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: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11887534
rs11887534
0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs6756629
rs6756629
0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.010 1.000 1 2013 2013
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
Nutritional and Metabolic Diseases 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
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
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
Digestive System Diseases; Neoplasms 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: C0029438
Disease: Massive Osteolyses
Massive Osteolyses
Musculoskeletal Diseases 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: 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: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
Digestive System Diseases; Neoplasms 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: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer
Digestive System Diseases; Neoplasms 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
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
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.020 0.500 2 2008 2009