rs116297894

A SNP in the KIF1A gene on chromosome 2. Its most notable genotype is A;A: Significance uncertain; *possible* association with spastic paraplegia

Gene
KIF1A
Location
Chr 2240,747,320 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadSignificance uncertain; *possible* association with spastic paraplegiaImportant · 3.0
  2. A;GBadCarrier of a *possible* spastic paraplegia mutation, but significance is uncertainImportant · 3.0
  3. G;GGoodcommon/normalTypical · 0.0

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

Conditions, medicines and genes

Other KIF1A SNPs

All KIF1A SNPs

Notes

From SNPedia

Notes

aka c.2676C>T, p.Ala892=, A993A ClinVar indicated "likely benign" for a form of spastic paraplegia (type 30), listed in OMIM as a recessively inherited condition; in , this variant appears to have some effect even if inherited in only one copy (see paper for discussion) and so rather than benign, it is tagged as of "uncertain significance".

A;A

See discussion in article cited in text of main rs-page

A;G

The significance of this variant is unclear; see article cited in text of main rs-page.

Source and license

Adapted from rs116297894 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.