rs149680046
This variant is located in the ASH2L gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
venous thromboembolism
Herrera-Rivero M et al. “Single- and Multimarker Genome-Wide Scans Evidence Novel Genetic Risk Modifiers for Venous Thromboembolism.” Thrombosis and Haemostasis 121(9):1169-1180 (2021)
Allele T
OR 0.06
p 3.0e-11
N 1,863
Large GWAS
European
▶ClinVar annotation
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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