Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 ×
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: rs28942112
rs28942112 		0.925 0.040 1 55052400 missense variant T/C snv
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.800 1.000 6 2003 2017
dbSNP: rs374603772
rs374603772 		0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.800 1.000 6 2006 2017
dbSNP: rs794728683
rs794728683 		0.882 0.080 1 55052398 missense variant G/A;T snv 4.0E-06
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.800 1.000 6 2008 2017
dbSNP: rs137852912
rs137852912 		0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.800 1.000 3 2003 2014
dbSNP: rs28942111
rs28942111 		0.807 0.120 1 55044016 missense variant T/A snv
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.800 1.000 3 2003 2014
dbSNP: rs1553135971
rs1553135971 		0.882 0.080 1 55044021 missense variant A/G snv
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.700 1.000 6 2003 2017
dbSNP: rs778738291
rs778738291 		0.925 0.080 1 55044020 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.700 1.000 4 2008 2016
dbSNP: rs370507566
rs370507566 		0.882 0.040 1 55057404 missense variant G/A;T snv 4.0E-05; 1.2E-05
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2014
dbSNP: rs564427867
rs564427867 		0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2014
dbSNP: rs1057519691
rs1057519691 		0.925 0.080 1 55043958 missense variant T/C;G snv
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs764603059
rs764603059 		1.000 0.040 1 55039940 missense variant G/T snv 1.1E-05 7.0E-06
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs778849441
rs778849441 		0.925 0.080 1 55058538 stop gained C/A;G;T snv 4.0E-06; 1.2E-05; 2.4E-05
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs970575319
rs970575319 		0.882 0.040 1 55052408 missense variant A/T snv
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		Nutritional and Metabolic Diseases 0.700 0