Details for Combination OLI1471

VARIANTS PSEN1:c.868+16G>A, in Heterozygous form; MAPT:c.1667G>C, p.Arg556Pro in Heterozygous form; CHAT:c.2629G>A, p.Ala877Thr in Heterozygous form; MTHFD1L:c.1691G>A, p.Arg564His in Heterozygous form; APOE:c.388T>C, p.Cys130Arg in Heterozygous form
GENE COMBINATION APOE; CHAT; MAPT; MTHFD1L; PSEN1
OLIGOGENIC EFFECT Unknown
ETHNICITY Colombian
OMIM IDS N.A.
DISEASES NON RARE IN EUROPE: Alzheimer disease
REFERENCES 35905044
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
101

FUN
manualmeta
11

FINAL
manualmeta
00


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