rs113993962(-;ATCTGA)
From SNPedia
carrier for Bloom syndrome mutation |
Is a | genotype |
of | rs113993962 |
Gene | BLM |
Chromosome | 15 |
Position | 90,766,923 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
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