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rs797045115

From SNPedia

ClinVar
Risk rs797045115(TATCA;TATCA)
Alt rs797045115(TATCA;TATCA)
Reference rs797045115(;)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91334069_91334070insTATCA
CLNSRC
CLNACC RCV000190641.1,