Details for Combination OLI465

VARIANTS DUOX2:p.Val779Met in Heterozygous form; SLC26A4:p.Tyr578His in Heterozygous form
GENE COMBINATION DUOX2; SLC26A4
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Congenital hypothyroidism
REFERENCES 32319661
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11
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