rs104894696

This is a variant in the HAMP gene that changes a glycine to an aspartate.

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GWAS Catalog Trait Associations (3)

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

mean corpuscular hemoglobin

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.14
p 9.0e-14
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.11
p 3.0e-12
N 394,642
Large GWAS
European

hepcidin measurement

Allara E et al. “Novel loci and biomedical consequences of iron homoeostasis variation.” Communications Biology 7(1):1631 (2024)
Allele A
OR 0.39
p 5.0e-13
N 91,675
Large GWAS
European

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.11
p 3.0e-9
N 408,112
Large GWAS
European
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ClinVar annotation

Risk Factor★☆☆☆
7 submitters3 publications

HAMP-related disorder; Hemochromatosis type 1 (HFE1); Hemochromatosis type 2B (HFE2B); Hemochromatosis, type 2a, modifier of; Hereditary hemochromatosis (HFE); not specified

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About HAMP

The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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