Variant (rsID / SNP)
rs1800562
rs1800562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HFE. Location: chromosome 6, position 26,093,141. Clinical significance in the table: Conflicting interpretations of pathogenicity; other; risk factor.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; other; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:26093141
- Cytoband
- 6p22.2
- HGVS
- NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
- Allele change
- Missense_C282Y
Associated conditions / phenotypes
Hemochromatosis type 1|Porphyria cutanea tarda, susceptibility to|Alzheimer disease, susceptibility to|Microvascular complications of diabetes, susceptibility to, 7|Hemochromatosis, juvenile, digenic|Transferrin serum level quantitative trait locus 2|Porphyria variegata, susceptibility to|Hereditary cancer-predisposing syndrome|Hereditary hemochromatosis|Cutaneous photosensitivity|Porphyrinuria|Hemochromatosis type 2|Alzheimer disease|Bronze diabetes|7 conditions|Cardiomyopathy|HFE-related disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.