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Variant (rsID / SNP)

rs1800730

HFE

rs1800730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HFE. Location: chromosome 6, position 26,091,185. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HFEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:26091185
Cytoband
6p22.2
HGVS
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
Allele change
Silent

Associated conditions / phenotypes

Hemochromatosis type 1|Hereditary hemochromatosis|6 conditions

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.