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rs1057516535

From SNPedia

ClinVar
Risk rs1057516535(-;-)
Alt rs1057516535(-;-)
Reference Rs1057516535(GAGTTCAGTTGT;GAGTTCAGTTGT)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107336479_107336490delTCAGTTGTGAGT
CLNSRC
CLNACC RCV000411353.1,