rs13008848
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.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
iron biomarker measurement
Sorokin EP et al. “Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis.” American Journal of Human Genetics 109(6):1092-1104 (2022)
Allele G
OR —
β 0.057
p 3.0e-10
N 35,324
Major Consortium StudyLarge GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters1 publicationnot specified; 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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…