rs34267578

This is a intron variant variant in the PHACTR1 gene.

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GWAS Catalog Trait Associations (1)

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

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)

Allele C

OR 0.01

p 2.0e-19

N 3,382,012

Large GWAS

European, East Asian, Hispanic or Latin American, African unspecified

About PHACTR1

The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

View all PHACTR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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