Details for Combination OLI169

VARIANTS CYP1B1:c.1103G>A, p.Arg368His in Heterozygous form; MYOC:c.144G>T, p.Gln48His in Heterozygous form
GENE COMBINATION CYP1B1; MYOC
OLIGOGENIC EFFECT True Digenic
ETHNICITY South Asian
OMIM IDS 231300; 613085; 617272; 600975; 613086
DISEASES Congenital glaucoma
REFERENCES 15733270
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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