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rs796052872

From SNPedia

ClinVar
Risk rs796052872(;)
Alt rs796052872(;)
Reference rs796052872(CTGC;CTGC)
Significance Pathogenic
Disease not provided Pyridoxal 5'-phosphate-dependent epilepsy
Variation info
Gene PNPO
CLNDBN not provided Pyridoxal 5'-phosphate-dependent epilepsy
Reversed 0
HGVS NC_000017.10:g.46023257_46023260delCCTG
CLNSRC
CLNACC RCV000188508.1, RCV000194659.1,