Disease: Hypercholesterolemia, Familial ×
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: rs10405652
rs10405652 		1.000 0.080 19 9630447 intron variant G/T snv 0.13
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
dbSNP: rs10411082
rs10411082 		1.000 0.080 19 9630540 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