rs11922083

This is a intron variant variant in the ERC2 gene.

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GWAS Catalog Trait Associations (1)

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

hip geometry

Faber BG et al. “The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture.” Human Molecular Genetics 34(3):207-217 (2025)

Allele C

OR 0.08

p 3.0e-25

N 43,485

Large GWAS

multi-ancestry

About ERC2

This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

View all ERC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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