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rs1057517246

From SNPedia

ClinVar
Risk rs1057517246(-;-)
Alt rs1057517246(-;-)
Reference Rs1057517246(TTAAGGAA;TTAAGGAA)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107323739_107323746delGGAATTAA
CLNSRC
CLNACC RCV000411038.1,