rs201108965

A SNP in the TMEM216 gene on chromosome 11. Its most notable genotype is G;T: Carrier of a Joubert syndrome 2 mutation

Gene
TMEM216
Location
Chr 1161,393,965 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. G;TMost notableBadCarrier of a Joubert syndrome 2 mutationImportant · 3.0

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

Notes

From SNPedia

Notes

aka c.218G>T (p.Arg73Leu or R73L)

G;T

Unaffected in absence of a second TMEM216 gene mutation

Source and license

Adapted from rs201108965 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.