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rs863224937

From SNPedia

ClinVar
Risk rs863224937(A;A)
Alt rs863224937(A;A)
Reference rs863224937(;)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179395589dupT
CLNSRC
CLNACC RCV000197581.1,