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rs886043147

From SNPedia

ClinVar
Risk rs886043147(-;-)
Alt rs886043147(-;-)
Reference Rs886043147(GCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA;GCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy 1
Variation info
Gene COL6A1
CLNDBN Ullrich congenital muscular dystrophy 1
Reversed 0
HGVS NC_000021.8:g.47404270_47404304delCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCG
CLNSRC
CLNACC RCV000276636.1,