Disease: Hyperlipoproteinemia Type I ×
Source: BEFREE ×
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: rs145844329
rs145844329 		0.882 0.120 8 143215486 missense variant G/A;C snv 2.5E-05; 8.5E-04
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs587777640
rs587777640 		0.925 0.080 8 143215097 missense variant G/T snv
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011