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rs1060503517

From SNPedia

ClinVar
Risk rs1060503517(-;-)
Alt rs1060503517(-;-)
Reference Rs1060503517(GTGGT;GTGGT)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93486125_93486129delTGGTG
CLNSRC
CLNACC RCV000465957.1,