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: rs76866386
rs76866386 		2 43848344 non coding transcript exon variant T/C snv 7.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2015 2019
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: rs76866386
rs76866386 		2 43848344 non coding transcript exon variant T/C snv 7.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
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: 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: rs4953023
rs4953023 		0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs6544713
rs6544713 		0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2009 2019
dbSNP: rs4953023
rs4953023 		0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs4953023
rs4953023 		0.925 0.040 2 43846861 non coding transcript exon variant G/A snv 6.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs6544713
rs6544713 		0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2009 2013
dbSNP: rs6544713
rs6544713 		0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2013 2019
dbSNP: rs6544713
rs6544713 		0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.800 1.000 2 2013 2018
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: 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