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rs797044667

From SNPedia

ClinVar
Risk rs797044667(A;A)
Alt rs797044667(A;A)
Reference rs797044667(;)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L Miyoshi muscular dystrophy 3
Reversed 0
HGVS NC_000011.9:g.22294476dupA
CLNSRC
CLNACC RCV000175502.1, RCV000175503.1,