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rs863224914

From SNPedia

ClinVar
Risk rs863224914(AAG;AAG)
Alt rs863224914(AAG;AAG)
Reference rs863224914(;)
Significance Probable-Pathogenic
Disease Mitochondrial DNA depletion syndrome
Variation info
Gene RRM2B
CLNDBN Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy
Reversed 1
HGVS NC_000008.10:g.103231090_103231091insCTT
CLNSRC
CLNACC RCV000198969.1,