rs3740237

This is a downstream gene variant variant in the EPC1 gene.

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GWAS Catalog Trait Associations (2)

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

BMI-adjusted waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele C
OR 0.02
p 6.0e-18
N 315,284
Meta-analysisLarge GWAS
European

neck of femur size

Tobias JH et al. “Femoral neck width genetic risk score is a novel independent risk factor for hip fractures.” Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research 39(3):241-251 (2024)
Allele G
OR 0.06
p 3.0e-8
N 38,150
Large GWAS
European

About EPC1

This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

View all EPC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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