rs3735018

This is a 3 prime utr variant variant in the CREB3L2 gene.

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GWAS Catalog Trait Associations (3)

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

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.08
p 6.0e-22
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified

total cholesterol measurement

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele C
OR 0.08
p 2.0e-10
N 288,127
Large GWAS
East Asian

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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