rs2517388

This is a regulatory region variant variant in the ASH2L gene.

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GWAS Catalog Trait Associations (1)

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

age at menopause

Stolk L et al. “Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.” Nature Genetics 44(3):260-8 (2012)

Allele G

OR 0.26

p 9.0e-15

N 38,968

Large GWAS

European

About ASH2L

Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Jul 2025]

View all ASH2L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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