rs367543012

A SNP in the BLM gene on chromosome 15. Its most notable genotype is T;T: Bloom syndrome; homozygote for mutation

Gene
BLM
Location
Chr 1590,769,438 (GRCh38)
Highest magnitude
6.6Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;TBadcarrier for Bloom syndrome mutationImportant · 3.0
  3. T;TMost notableBadBloom syndrome; homozygote for mutationVery important · 6.6

On SNPedia: (-;-), (-;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other BLM SNPs

All BLM SNPs

Notes

From SNPedia

Notes

BLM c.2407insT

-;T

Unaffected in absence of a second mutation in the BLM gene

Source and license

Adapted from rs367543012 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.