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rs1060500652

From SNPedia

ClinVar
Risk rs1060500652(-;-)
Alt rs1060500652(-;-)
Reference Rs1060500652(ATGTAAGTT;ATGTAAGTT)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91308645_91308653delGTAAGTTAT
CLNSRC
CLNACC RCV000469408.1,