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rs367543012(-;T)

From SNPedia
carrier for Bloom syndrome mutation
Is agenotype
ofrs367543012
GeneBLM
Chromosome15
Position90,769,438
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 3 carrier for Bloom syndrome mutation
(T;T) 6.6 Bloom syndrome; homozygote for mutation

Unaffected in absence of a second mutation in the BLM gene