rs11539983

This variant is located in the SLC40A1 gene.

GWAS Catalog Trait Associations (1)

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

mean corpuscular hemoglobin concentration

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 T
OR 0.04
p 5.0e-15
N 583,936
Major Consortium StudyLarge GWAS
multi-ancestry

ClinVar annotation

Benign★★★
2 submitters1 publication

Hemochromatosis type 4; not provided

View on ClinVar →

About SLC40A1

The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]

View all SLC40A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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