LCAT, lecithin-cholesterol acyltransferase, 3931

N. diseases: 94; N. variants: 41
Disease: Cholesteryl Ester Transfer Protein 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: rs1352056360
rs1352056360 		0.925 0.080 16 67940467 missense variant C/G snv 1.2E-05
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998