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rs1064792950

From SNPedia

ClinVar
Risk rs1064792950(-;-)
Alt rs1064792950(-;-)
Reference Rs1064792950(ACTTCCGGAATACTCAA;ACTTCCGGAATACTCAA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene SNHG14 UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584352_25584368del17
CLNSRC
CLNACC RCV000470807.1,