PLTP, phospholipid transfer protein, 5360

N. diseases: 62; N. variants: 9
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: rs2294213
rs2294213 		0.925 0.080 20 45912053 intron variant C/A;G snv
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 2008 2008