rs2360743

This variant is located in the SLC44A2 gene.

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GWAS Catalog Trait Associations (1)

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

congenital heart disease

Rashkin SR et al. “A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.” American Journal of Medical Genetics. Part a 188(8):2303-2314 (2022)

Allele T

OR —

β 0.020

p 7.0e-13

N 715

Small GWAS

multi-ancestry

About SLC44A2

Enables choline transmembrane transporter activity and ethanolamine transmembrane transporter activity. Involved in choline transport; ethanolamine transport; and transmembrane transport. Located in mitochondrial outer membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC44A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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