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rs1057518659

From SNPedia
ClinVar
Risk rs1057518659(-;-)
Alt rs1057518659(-;-)
Reference Rs1057518659(TTGAGCAAACT;TTGAGCAAACT)
Significance Probable-Pathogenic
Disease Koolen-de Vries syndrome
Variation info
Gene KANSL1
CLNDBN Koolen-de Vries syndrome
Reversed 1
HGVS NC_000017.10:g.44248515_44248525delAGTTTGCTCAA
CLNSRC
CLNACC RCV000415114.1,