Details for Combination OLI706

VARIANTS MTHFR:c.1409A>T, p.Glu470Val in Heterozygous form; SLC2A1:c.188C>T, p.Thr63Met in Heterozygous form; FZD2:c.121C>T, p.Pro41Ser in Heterozygous form
GENE COMBINATION FZD2; MTHFR; SLC2A1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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