CETP, cholesteryl ester transfer protein, 1071

N. diseases: 188; N. variants: 88
Disease: Hypercholesterolemia, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2303790
rs2303790
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		0.010 GeneticVariation BEFREE In 288 unrelated Japanese subjects with heterozygous FH, the allele frequency of an intron 14 G(+1)-to-A mutation (Int14 A) and a missense mutation in exon 15 (Asp442 to Gly, D442G) was 0.3 and 3.0%, respectively. 9242969 1997