Variant (rsID / SNP)

rs146519482

rs146519482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HFE. Location: chromosome 6, position 26,091,703. Clinical significance in the table: Pathogenic.

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Reference-table entries

HFEPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:26091703
Cytoband: 6p22.2
HGVS: NM_000410.4(HFE):c.502G>T (p.Glu168Ter)
Allele change: Missense_E168Q

Associated conditions / phenotypes

Hemochromatosis type 1|Hereditary hemochromatosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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