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rs1057519010

From SNPedia
ClinVar
Risk rs1057519010(-;-)
Alt rs1057519010(-;-)
Reference Rs1057519010(GGAGTGAATCTCT;GGAGTGAATCTCT)
Significance Probable-Pathogenic
Disease intellectual deficiency
Variation info
Gene SCN2A
CLNDBN intellectual deficiency
Reversed 0
HGVS NC_000002.11:g.166231285_166231297delGGAGTGAATCTCT
CLNSRC
CLNACC RCV000415077.1,