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rs727503837

From SNPedia

ClinVar
Risk rs727503837(;)
Alt rs727503837(;)
Reference rs727503837(GTTCTGGAGTGCTCT;GTTCTGGAGTGCTCT)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42680050_42680064delTTCTGGAGTGCTCTG
CLNSRC HGMD
CLNACC RCV000152920.4,