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: 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: rs4148211
rs4148211 		0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 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 		Digestive System Diseases 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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17031710
rs17031710 		2 43843754 intron variant A/T snv 2.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17031710
rs17031710 		2 43843754 intron variant A/T snv 2.1E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17031710
rs17031710 		2 43843754 intron variant A/T snv 2.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17031710
rs17031710 		2 43843754 intron variant A/T snv 2.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs137852993
rs137852993 		1.000 0.120 2 43852483 missense variant C/A snv 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2004
dbSNP: rs72875462
rs72875462 		2 43852171 intron variant C/A snv 9.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs72875462
rs72875462 		2 43852171 intron variant C/A snv 9.4E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs758551848
rs758551848 		1.000 0.120 2 43831834 stop gained C/A;G snv
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs4245791
rs4245791 		0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2013 2019
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 		Digestive System Diseases 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 		Digestive System Diseases 0.020 1.000 2 2007 2014
dbSNP: rs4245791
rs4245791 		0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.710 1.000 2 2007 2016
dbSNP: rs4245791
rs4245791 		0.882 0.080 2 43847292 non coding transcript exon variant C/A;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2019
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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
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