rs386833672

A SNP in the AIRE gene on chromosome 21. Its most notable genotype is -;A: Carrier of a polyglandular autoimmune syndrome type 1 mutation

Gene
AIRE
Location
Chr 2144,293,060 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;AMost notableBadCarrier of a polyglandular autoimmune syndrome type 1 mutationImportant · 3.0

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

Other AIRE SNPs

All AIRE SNPs

Notes

From SNPedia

Notes

aka c.1163_1164insA (p.Met388Ilefs)

-;A

Unaffected in absence of a second AIRE gene mutation

Source and license

Adapted from rs386833672 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.