Details for Combination OLI460

VARIANTS CYP1B1:c.1103G>A, p.Arg368His in Heterozygous form; MYOC:c.1218G>T, p.Gly399Val in Heterozygous form
GENE COMBINATION CYP1B1; MYOC
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Guyanese/East Indian
OMIM IDS 231300; 137750; 611274; 610535; 608696; 608695
DISEASES Juvenile glaucoma
REFERENCES 11774072
SCORES
FAMmanual
3

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
101

FUN
manualmeta
11

FINAL
manualmeta
22


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