Details for Combination OLI269

VARIANTS SOD1:p.Ala5Val in Heterozygous form; DAO:c.1034C>T, p.Ser345Phe in Heterozygous form
GENE COMBINATION DAO; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 614696; 205250; 608627; 300857; 616437; 608030; 612577; 613435; 612069; 615426; 611895; 606070; 613954; 614808; 615515; 606640; 608031; 616208; 617839; 617892; 105400
DISEASES Amyotrophic lateral sclerosis
REFERENCES 25382069
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


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