rs9899375

This is a downstream gene variant variant in the CHD3 gene.

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GWAS Catalog Trait Associations (2)

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

Ischemic stroke

Carty CL et al. “Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.” Stroke 46(8):2063-8 (2015)
Allele T
OR 3.30
p 5.0e-9
N 14,519
Meta-analysisLarge GWAS
multi-ancestry

stroke

Carty CL et al. “Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.” Stroke 46(8):2063-8 (2015)
Allele T
OR 2.57
p 1.0e-8
N 14,746
Meta-analysisLarge GWAS
African American or Afro-Caribbean

About CHD3

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

View all CHD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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