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: rs5882
rs5882
Entrez Id: 1071
Gene Symbol: CETP
CETP
CUI: C0020445
Disease:
Hypercholesterolemia, Familial 		0.010 GeneticVariation BEFREE This study assessed the gender-specific influence of the cholesteryl ester transfer protein (TaqIB, I405V) and lipoprotein lipase (S447X) polymorphisms on the response to an oral fat tolerance test in heterozygotes for familial hypercholesterolaemia. 19558660 2009
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