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rs1057519062

From SNPedia

ClinVar
Risk rs1057519062(-;-)
Alt rs1057519062(-;-)
Reference Rs1057519062(CAAAGAAAAACTTAAAG;CAAAGAAAAACTTAAAG)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584334_25584350del17
CLNSRC
CLNACC RCV000416334.1,