rs201540674

A SNP in the RTEL1 gene on chromosome 20. Its most notable genotype is A;G: Carrier of a dyskeratosis congenita (recessive) mutation

Gene
RTEL1
Location
Chr 2063,695,619 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of a dyskeratosis congenita (recessive) mutationImportant · 3.0
  2. G;GGoodcommon in clinvarTypical · 0.0

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

Notes

From SNPedia

Notes

aka c.2402G>A (p.Arg801His or R80H) Note that this variant is also called c.3791G>A (p.Arg1264His or R1264H) when numbering using a different reference sequence is used; for an example, see the 2014 paper that concluded that this variant is likely to be a founder mutation in Ashkenazi Jews and should be included in carrier screens. news article from January 2019 discusses the search for a cure

A;G

Unaffected in absence of a second RTEL1 gene mutation

Source and license

Adapted from rs201540674 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.