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rs1057519601

From SNPedia

ClinVar
Risk rs1057519601(CCAGGCCCGTGCAGCTC;CCAGGCCCGTGCAGCTC)
Alt rs1057519601(CCAGGCCCGTGCAGCTC;CCAGGCCCGTGCAGCTC)
Reference Rs1057519601(G;G)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene MYO15A
CLNDBN Deafness, autosomal recessive 3
Reversed 0
HGVS NC_000017.10:g.18075078delGinsCCAGGCCCGTGCAGCTC
CLNSRC
CLNACC RCV000417137.1,