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rs864309743

From SNPedia

ClinVar
Risk rs864309743(C;C)
Alt rs864309743(C;C)
Reference rs864309743(;)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria cblD
Variation info
Gene MMADHC
CLNDBN Methylmalonic acidemia with homocystinuria cblD
Reversed 1
HGVS NC_000002.11:g.150432974dupG
CLNSRC
CLNACC RCV000203351.1,