rs117447608(A;G)

Pathogenicity unclear; possible carrier of a Joubert syndrome mutation

Magnitude
2.0Worth knowing
Repute
Bad
On SNPedia
rs117447608(A;G)
Gene
AHI1

Other genotypes of rs117447608

  1. G;GGoodcommon in clinvarTypical · 0.0

All about rs117447608

Notes

From SNPedia

Unaffected in absence of another AHI1 gene mutation, and even then, see rs117447608 for a discussion of whether the minor allele is pathogenic at all.

Source and license

Adapted from rs117447608(A;G) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.