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rs1057516361

From SNPedia
ClinVar
Risk rs1057516361(-;-)
Alt rs1057516361(-;-)
Reference Rs1057516361(AATTTAGCAGCCAGCA;AATTTAGCAGCCAGCA)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91304323_91304338del16
CLNSRC
CLNACC RCV000411275.1,