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rs797045898

From SNPedia

ClinVar
Risk rs797045898(TGA;TGA)
Alt rs797045898(TGA;TGA)
Reference rs797045898(CCTAG;CCTAG)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene POMT2
CLNDBN Muscular dystrophy
Reversed 1
HGVS NC_000014.8:g.77750217_77750221delCTAGGinsTCA
CLNSRC
CLNACC RCV000192561.1,