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rs797045931

From SNPedia

ClinVar
Risk rs797045931(;)
Alt rs797045931(;)
Reference rs797045931(GCCTG;GCCTG)
Significance Pathogenic
Disease Myopathy
Variation info
Gene RYR1
CLNDBN Myopathy
Reversed 0
HGVS NC_000019.9:g.38948223_38948227delTGGCC
CLNSRC
CLNACC RCV000192785.1,