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rs794727231

From SNPedia

ClinVar
Risk rs794727231(;)
Alt rs794727231(;)
Reference rs794727231(AGCTCAT;AGCTCAT)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22294472_22294478delTCATAGC
CLNSRC
CLNACC RCV000175500.1, RCV000175501.1,