rs113993962(-;ATCTGA)

Carrier for Bloom syndrome mutation

Magnitude
3.0Important
Repute
Bad
On SNPedia
rs113993962(-;ATCTGA)
Gene
BLM

Other genotypes of rs113993962

  1. -;-Most notableBadBloom syndrome; homozygote for most common mutationVery important · 6.6
  2. ATCTGA;ATCTGAGoodcommon in clinvarTypical · 0.0

All about rs113993962

Notes

From SNPedia

Unaffected in absence of a second mutation in the BLM gene

Source and license

Adapted from rs113993962(-;ATCTGA) on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.