rs2298720

This variant is located in the SLC14A1 gene.

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GWAS Catalog Trait Associations (1)

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

mean corpuscular hemoglobin concentration

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.04

p 1.0e-45

N 485,950

Large GWAS

multi-ancestry

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele A

OR 0.06

p 2.0e-48

N 126,151

Large GWAS

East Asian

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ClinVar annotation

Benign

1 submitter

SLC14A1-related disorder

View on ClinVar →

About SLC14A1

The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]

View all SLC14A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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