rs2071303

This variant is located in the HFE gene.

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GWAS Catalog Trait Associations (7)

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

neuroticism measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele C
OR 0.01
p 2.0e-14
N 523,783
Large GWAS
European
Nagel M et al. “Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.” Nature Genetics 50(7):920-927 (2018)
Allele C
OR 5.83
p 5.0e-9
N 449,484
Meta-analysisLarge GWAS
European

depressive symptom measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele C
OR 0.01
p 3.0e-14
N 1,067,913
Large GWAS
European

systolic blood pressure

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.01
p 3.0e-12
N 485,664
Large GWAS
multi-ancestry

wellbeing measurement

Baselmans BML et al. “Multivariate genome-wide analyses of the well-being spectrum.” Nature Genetics 51(3):445-451 (2019)
Allele C
OR 0.01
p 3.0e-12
N 80,852
Large GWAS
European

intelligence

Hill WD et al. “A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.” Molecular Psychiatry 24(2):169-181 (2019)
Allele T
OR 0.02
p 5.0e-8
N 248,482
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
13 submitters5 publications

not specified; Hereditary hemochromatosis; not provided; Hemochromatosis type 1

View on ClinVar →
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Research that mentions this SNP (1)

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An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia
AssociationN=531Davis CF et al.(2010)· Annals of Hematology

Case-control study of 117 childhood acute lymphoblastic leukemia cases and 414 newborn controls from South Wales investigating the HFE gene and neighboring histone genes. Identified rs807212 as a tagging SNP for the common HFE haplotype with a strong male-specific protective association (adjusted OR=0.27 for heterozygotes, p=0.009) that accounts for the previously reported C282Y risk association. Analysis of 24 SNPs spanning 52 kb in the HFE region revealed complex haplotype structure with male-specific genetic effects.

Traits studied:Birth weightChildhood acute lymphoblastic leukemiaHemochromatosis
PubMedDOIMetascience Observatory

About HFE

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]

View all HFE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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