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