rs1799945
rs1799945 is a missense variant in HFE causing the His63Asp (H63D) substitution in the HFE iron-regulatory protein. The altered protein has a modestly reduced ability to interact properly with the transferrin receptor, mildly impairing regulation of intestinal iron absorption. H63D is a weaker hereditary-hemochromatosis allele than C282Y and mainly raises iron-overload risk when paired with a second HFE variant such as C282Y (rs1800562) on the other chromosome, which is why this dataset reports it alongside C282Y as a compound iron-overload risk marker.
Traits rs1799945 reads
Gene
Reference databases
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