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rs1057517107

From SNPedia

ClinVar
Risk rs1057517107(-;-)
Alt rs1057517107(-;-)
Reference Rs1057517107(CATGGCTGAG;CATGGCTGAG)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48243401_48243410delCATGGCTGAG
CLNSRC
CLNACC RCV000411207.1,