Details for Combination OLI1635

VARIANTS SOD1:c.272A>C, p.Asp91Ala in Heterozygous form; FIG4:c.2116G>A, p.Val706Ile in Heterozygous form
GENE COMBINATION FIG4; 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 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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