rs189378943

This is a regulatory region variant variant in the CHIC2 gene.

GWAS Catalog Trait Associations (1)

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

breast benign neoplasm

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 4.76
p 8.0e-12
N 571,990
Major Consortium StudyLarge GWAS
multi-ancestry

About CHIC2

This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]

View all CHIC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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