Disease: Hypobetalipoproteinemias ×
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: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs61750974
rs61750974 		1.000 0.080 4 99591235 missense variant G/A snv 1.0E-02 7.8E-03
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004