rs80338869

A SNP in the SPG11 gene on chromosome 15. Its most notable genotype is G;T: Carrier of a spastic paraplegia 11 mutation

Gene
SPG11
Location
Chr 1544,564,675 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA
Minor allele frequency
1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;TMost notableBadCarrier of a spastic paraplegia 11 mutationImportant · 3.0
  2. G;GGoodcommon in clinvarTypical · 0.0
  3. A;GGoodBenign variant according to ClinVarTypical · 0.0

SNPedia records rs80338869 on the minus strand: (A;C), (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka c.7023C>A (p.Tyr2341Ter or Y2341X) and also c.7023C>T (p.Tyr2341=); the former is considered pathogenic in ClinVar, while the latter is considered benign

G;T

Unaffected in absence of a second SPG11 gene mutation

Source and license

Adapted from rs80338869 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.