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rs797045427

From SNPedia

ClinVar
Risk rs797045427(CC;CC)
Alt rs797045427(CC;CC)
Reference rs797045427(;)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42676698_42676699dupCC
CLNSRC
CLNACC RCV000192648.1,