Details for Combination OLI1700

VARIANTS SOD1:p.Gly94Arg in Heterozygous form; SQSTM1:p.Gly262Arg in Heterozygous form
GENE COMBINATION SOD1; SQSTM1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 205250; 613435; 616208; 608627; 105400; 615426; 606640; 612577; 614808; 613954; 606070; 615515; 608031; 300857; 612069; 614696; 616437; 608030; 611895; 617892; 617839
DISEASES Amyotrophic lateral sclerosis
REFERENCES 37197644
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0122

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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