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rs794729197

From SNPedia

ClinVar
Risk rs794729197(ACC;ACC)
Alt rs794729197(ACC;ACC)
Reference rs794729197(;)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 7
Variation info
Gene KCNQ2
CLNDBN Early infantile epileptic encephalopathy 7
Reversed 1
HGVS NC_000020.10:g.62073876_62073877insGGT
CLNSRC
CLNACC RCV000184016.2,