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: rs2230806
rs2230806
0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003