ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Disease: Familial HDL deficiency ×
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: rs758100110
rs758100110 		0.925 0.120 9 104845527 missense variant C/T snv 4.0E-06
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002