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: rs2303790
rs2303790
0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1997 1997
dbSNP: rs5882
rs5882
0.649 0.400 16 56982180 missense variant G/A;C snv 0.62
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009