rs17089782

A SNP in the PIBF1 gene on chromosome 13. Its most notable genotype is A;G: Carrier of a Joubert syndrome 33 mutation

Gene
PIBF1
Location
Chr 1372,835,359 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of a Joubert syndrome 33 mutationImportant · 3.07% of people
  2. G;GGoodcommon in clinvarTypical · 0.093% of people

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

Frequency

Share of each genotype in 9 HapMap populations.

  • AverageA;G 7% G;G 93%
  • European ancestry (Utah)A;G 2% G;G 98%
  • Han Chinese (Beijing)A;G 9% G;G 91%
  • Japanese (Tokyo)A;G 2% G;G 98%
  • Yoruba (Nigeria)A;G 0% G;G 100%
  • African ancestry (Southwest US)A;G 4% G;G 96%
  • Chinese (Denver)A;G 12% G;G 87%
  • Gujarati IndianA;G 5% G;G 95%
  • Mexican ancestry (Los Angeles)A;G 21% G;G 79%
  • TuscanA;G 7% G;G 93%

Other PIBF1 SNPs

All PIBF1 SNPs

Notes

From SNPedia

Notes

aka c.1214G>A (p.Arg405Gln or R405Q)

A;G

Unaffected in absence of a second PIBF1 gene mutation

Source and license

Adapted from rs17089782 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.