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rs863224454

From SNPedia

ClinVar
Risk rs863224454(AG;AG)
Alt rs863224454(AG;AG)
Reference rs863224454(GT;GT)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type IV
Reversed 1
HGVS NC_000005.9:g.148407708_148407709delACinsCT
CLNSRC
CLNACC RCV000196497.1,