rs2071303
This variant is located in the HFE gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
not specified; Hereditary hemochromatosis; not provided; Hemochromatosis type 1
View on ClinVar →▶Research that mentions this SNP (1)
▶An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemiaAssociationN=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.
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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