Disease: Hypercholesterolemia ×
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: rs137852912
rs137852912 		0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.100 1.000 11 2004 2020
dbSNP: rs28942111
rs28942111 		0.807 0.120 1 55044016 missense variant T/A snv
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.030 1.000 3 2007 2009
dbSNP: rs11591147
rs11591147 		0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.020 0.500 2 2015 2018
dbSNP: rs141502002
rs141502002 		0.882 0.080 1 55058549 missense variant C/T snv 6.0E-04 2.8E-03
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs35605815
rs35605815 		0.925 0.040 1 55052407 frameshift variant -/T ins
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs370507566
rs370507566 		0.882 0.040 1 55057404 missense variant G/A;T snv 4.0E-05; 1.2E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs374603772
rs374603772 		0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs505151
rs505151 		0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs562556
rs562556 		0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs564427867
rs564427867 		0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs794728683
rs794728683 		0.882 0.080 1 55052398 missense variant G/A;T snv 4.0E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs970575319
rs970575319 		0.882 0.040 1 55052408 missense variant A/T snv
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007