Details for Combination OLI092

VARIANTS SMC1B:c.3530A>T, p.Gln1177Leu in Heterozygous form; BMP15:c.13A>C, p.Ser5Arg in Heterozygous form
GENE COMBINATION BMP15; SMC1B
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 233300; 618723; 618078; 614324; 300510; 618117
DISEASES Primary ovarian failure
REFERENCES 27603904
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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