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rs1057519000

From SNPedia

ClinVar
Risk rs1057519000(-;-)
Alt rs1057519000(-;-)
Reference Rs1057519000(TGCAGTGGGC;TGCAGTGGGC)
Significance Probable-Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SLC35A2
CLNDBN Epileptic encephalopathy
Reversed 1
HGVS NC_000023.10:g.48762677_48762686delGCCCACTGCA
CLNSRC
CLNACC RCV000415123.1,