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rs794727745

From SNPedia

ClinVar
Risk rs794727745(;)
Alt rs794727745(;)
Reference rs794727745(AGCAA;AGCAA)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22242663_22242667delCAAAG
CLNSRC
CLNACC RCV000179063.1,