rs7559925

This is a intron variant variant in the ACVR2A gene.

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GWAS Catalog Trait Associations (1)

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

Raynaud disease

Tervi A et al. “Genetic and functional analysis of Raynaud's syndrome implicates loci in vasculature and immunity.” Cell Genomics 4(9):100630 (2024)
Allele C
OR 0.08
p 3.0e-8
N 1,118,229
Large GWAS
European

About ACVR2A

This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]

View all ACVR2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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