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rs1060501490

From SNPedia
ClinVar
Risk rs1060501490(-;-)
Alt rs1060501490(-;-)
Reference Rs1060501490(AGGTG;AGGTG)
Significance Pathogenic
Disease Beckwith-Wiedemann syndrome
Variation info
Gene NSD1
CLNDBN Beckwith-Wiedemann syndrome
Reversed 0
HGVS NC_000005.9:g.176638019_176638023delTGAGG
CLNSRC
CLNACC RCV000463366.1,