Details for Combination OLI952

VARIANTS DAO:c.809T>C, p.Lys270Pro in Heterozygous form; SQSTM1:c.799C>T, p.Arg267Cys in Heterozygous form
GENE COMBINATION DAO; SQSTM1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 608031; 612069; 613954; 300857; 606070; 612577; 617839; 613435; 615515; 616437; 616208; 615426; 614696; 608627; 606640; 608030; 617892; 611895; 205250; 105400; 614808
DISEASES Amyotrophic lateral sclerosis
REFERENCES 34275688
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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