rs183130
This is a upstream gene variant variant in the CETP gene.
▶GWAS Catalog Trait Associations (154)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (154)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
Association
1 submitter1 publicationHigh density lipoprotein cholesterol level quantitative trait locus 10
View on ClinVar →About CETP
The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
View all CETP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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