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: rs8112449
rs8112449
0.925 0.160 19 10409388 intron variant G/A snv 0.31
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013