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rs864622347

From SNPedia

ClinVar
Risk rs864622347(;)
Alt rs864622347(;)
Reference rs864622347(AT;AT)
Significance Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91326076_91326077delTA
CLNSRC
CLNACC RCV000204244.1,