rs141282814

This variant is located 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.

Abnormality of the gastrointestinal tract

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 1.83

p 3.0e-12

N 572,046

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★☆☆☆

2 submitters

not provided; PHACTR1-related disorder

View on ClinVar →

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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