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rs1057516261

From SNPedia

ClinVar
Risk rs1057516261(-;-)
Alt rs1057516261(-;-)
Reference Rs1057516261(GAAAG;GAAAG)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91354560_91354564delAGGAA
CLNSRC
CLNACC RCV000412153.1,