Details for Combination OLI187

VARIANTS HFE:p.Cys282Tyr in Homozygous form; HAMP:c.212G>A, p.Gly71Asp in Heterozygous form
GENE COMBINATION HAMP; HFE
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Rare hereditary hemochromatosis
REFERENCES 12915468
SCORES
FAMmanual
1

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
101

FUN
manualmeta
22

FINAL
manualmeta
22


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