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rs1057516452

From SNPedia
ClinVar
Risk rs1057516452(-;-)
Alt rs1057516452(-;-)
Reference Rs1057516452(ACACGTT;ACACGTT)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91328208_91328214delCGTTACA
CLNSRC
CLNACC RCV000409206.1,