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rs786205238

From SNPedia

ClinVar
Risk rs786205238(CGGCCCCGGCCCCGGCCCCCGCCCC;CGGCCCCGGCCCCGGCCCCCGCCCC) rs786205238(CGCCCC;CGCCCC)
Alt rs786205238(CGGCCCCGGCCCCGGCCCCCGCCCC;CGGCCCCGGCCCCGGCCCCCGCCCC) rs786205238(CGCCCC;CGCCCC)
Reference Rs786205238(-;-)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene CDKN1C
CLNDBN Beckwith-Wiedemann syndrome
Reversed 1
HGVS NC_000011.9:g.2906085_2906090dupGGGGCG; NC_000011.9:g.2906085_2906109dup25
CLNSRC
CLNACC RCV000226884.2, RCV000172983.1,