rs367543012(-;T)
From SNPedia
carrier for Bloom syndrome mutation |
Is a | genotype |
of | rs367543012 |
Gene | BLM |
Chromosome | 15 |
Position | 90,769,438 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
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