rs111749498

This is a regulatory region variant variant in the SLC47A2 gene.

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GWAS Catalog Trait Associations (1)

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

female infertility

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)

Allele T

OR 2.29

p 1.0e-8

N 783,248

Large GWAS

European, South Asian, African American or Afro-Caribbean, Other admixed ancestry, East Asian

About SLC47A2

This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

View all SLC47A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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