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rs864309674

From SNPedia

ClinVar
Risk rs864309674(G;G)
Alt rs864309674(G;G)
Reference rs864309674(;)
Significance Pathogenic
Disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Variation info
Gene PLEC
CLNDBN Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Reversed 1
HGVS NC_000008.10:g.144992027dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023090.7,