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rs113993962(-;ATCTGA)

From SNPedia
(Redirected from I4000396(D;I))
carrier for Bloom syndrome mutation
Is agenotype
ofrs113993962
GeneBLM
Chromosome15
Position90,766,923
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 6.6 Bloom syndrome; homozygote for most common mutation
(-;ATCTGA) 3 carrier for Bloom syndrome mutation
(ATCTGA;ATCTGA) 0 common in clinvar

Unaffected in absence of a second mutation in the BLM gene