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rs794727697

From SNPedia

ClinVar
Risk rs794727697(;)
Alt rs794727697(;)
Reference rs794727697(GAA;GAA)
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.42681252_42681254delGAA
CLNSRC
CLNACC RCV000178708.1,