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: 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: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
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: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
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: 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: rs6756629
rs6756629 		0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2009 2009
dbSNP: rs6756629
rs6756629 		0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2009 2009
dbSNP: rs6756629
rs6756629 		0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 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: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		Digestive System Diseases 0.030 1.000 3 2010 2014
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: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.020 1.000 2 2010 2019
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: 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: rs119480069
rs119480069 		1.000 0.120 2 43824071 missense variant C/T snv 1.5E-04 8.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.710 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: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2011
dbSNP: rs10205816
rs10205816 		2 43817116 intron variant A/G snv 0.39
CUI: C0428578
Disease: Iron level result
Iron level result 		0.700 1.000 1 2011 2011
dbSNP: rs10205816
rs10205816 		2 43817116 intron variant A/G snv 0.39
CUI: C0337439
Disease: Iron measurement
Iron measurement 		0.700 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: 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: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs6756629
rs6756629 		0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17031687
rs17031687 		2 43828248 non coding transcript exon variant C/T snv 7.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17031687
rs17031687 		2 43828248 non coding transcript exon variant C/T snv 7.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
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