rs73729083

This is a regulatory region variant variant in the CREB3L2 gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

high density lipoprotein cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele C
OR 0.03
p 4.0e-13
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

low density lipoprotein cholesterol measurement, alcohol consumption quality

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
p 2.0e-9
N 71,394
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement, alcohol drinking

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
p 3.0e-10
N 127,326
Large GWAS
multi-ancestry

About CREB3L2

This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

View all CREB3L2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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