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rs1060501003

From SNPedia

ClinVar
Risk rs1060501003(-;-)
Alt rs1060501003(-;-)
Reference Rs1060501003(ACCGTCTTC;ACCGTCTTC)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth Neuropathy X
Variation info
Gene GJB1
CLNDBN Charcot-Marie-Tooth Neuropathy X
Reversed 0
HGVS NC_000023.10:g.70444129_70444137delCCGTCTTCA
CLNSRC
CLNACC RCV000462782.1,