Details for Combination OLI075

VARIANTS FGFR1:c.748C>T, p.Arg250Trp in Heterozygous form; SEMA3A:c.2150C>T, p.Thr717Ile in Heterozygous form
GENE COMBINATION FGFR1; SEMA3A
OLIGOGENIC EFFECT True Digenic
ETHNICITY Middle eastern
OMIM IDS 107200
DISEASES Isolated congenital anosmia
REFERENCES 29255181
SCORES
FAMmanual
3

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
12


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