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: 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
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
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
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
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: rs1205128669
rs1205128669 		0.925 0.040 2 43877848 missense variant G/A;C snv 4.0E-06
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1205128669
rs1205128669 		0.925 0.040 2 43877848 missense variant G/A;C snv 4.0E-06
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1209143268
rs1209143268 		1.000 0.040 2 43877840 missense variant T/G snv 8.0E-06
CUI: C0302314
Disease: Xanthoma
Xanthoma 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs137852988
rs137852988 		1.000 0.120 2 43875377 missense variant G/A snv 6.4E-05 2.2E-04
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs137854891
rs137854891 		1.000 0.120 2 43846309 stop gained C/G snv 1.6E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs147194762
rs147194762 		0.925 0.040 2 43873860 missense variant A/C;G snv 8.0E-06; 3.8E-04
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs147194762
rs147194762 		0.925 0.040 2 43873860 missense variant A/C;G snv 8.0E-06; 3.8E-04
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs41360247
rs41360247 		0.882 0.080 2 43846517 non coding transcript exon variant T/C snv 7.9E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4148211
rs4148211 		0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4148217
rs4148217 		0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4245791
rs4245791 		0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010