rs113993962(ATCTGA;ATCTGA)
From SNPedia
| common in clinvar |
| Is a | genotype |
| of | rs113993962 |
| Gene | BLM |
| Chromosome | 15 |
| Position | 90,766,923 |
| mentioned | by |
| Magnitude | 0 |
| Repute | Good |
| 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 |
