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rs777099958

From SNPedia

ClinVar
Risk rs777099958(C;C)
Alt rs777099958(C;C)
Reference rs777099958(;)
Significance Pathogenic
Disease GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Variation info
Gene FTCD
CLNDBN GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Reversed 0
HGVS NC_000021.8:g.47558499dupC
CLNSRC
CLNACC RCV000174355.1,