Details for Combination OLI312

VARIANTS FZD4:c.1463G>A, p.Gly488Asp in Heterozygous form; ZNF408:c.892G>A, p.Gly298Ser in Heterozygous form
GENE COMBINATION FZD4; ZNF408
OLIGOGENIC EFFECT True Digenic
ETHNICITY East Asian
OMIM IDS 305390; 133780; 617572; 613310; 601813; 616468; 605750
DISEASES Familial exudative vitreoretinopathy
REFERENCES 30097784
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


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