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: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 9 2010 2019
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 5 2010 2019
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 4 2010 2013
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.710 1.000 3 2015 2018
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: 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: rs4148218
rs4148218 		2 43872443 intron variant G/A snv 0.22
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4148218
rs4148218 		2 43872443 intron variant G/A snv 0.22
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4148218
rs4148218 		2 43872443 intron variant G/A snv 0.22
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.700 1.000 1 2009 2009
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4299376
rs4299376 		0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs66900043
rs66900043 		2 43841202 intron variant C/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs66900043
rs66900043 		2 43841202 intron variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
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: rs75331444
rs75331444 		2 43842633 intron variant G/A snv 7.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
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: 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