Tag

Hemochromatosis

5 genetic variants with this tag.

RSID	Gene	Description	Category
rs1799945	HFE H63D	Second most common hereditary hemochromatosis variant, mildly increasing iron...	Iron & Mineral Transport	Hemochromatosis	Established
rs1800562	HFE C282Y	Primary variant causing hereditary hemochromatosis type 1, disrupting iron re...	Iron & Mineral Transport	Hemochromatosis	Established
rs1800730	HFE S65C	Third HFE variant associated with hemochromatosis; mildly impairs iron regula...	Iron & Mineral Transport	Hemochromatosis	Moderate
rs7385804	TFR2	Intronic variant in transferrin receptor 2 that tags altered TFR2 expression ...	Iron & Mineral Transport	Hemochromatosis	Strong
rs4434553	TFR2 TFR2 upstream variant	Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production a...	Vitamins & Nutrient Absorption	Hemochromatosis	Emerging