rs548204329

A SNP in the KIF1A gene on chromosome 2. Its most notable genotype is A;G: Possible spastic paraplegia mutation?

Gene
KIF1A
Location
Chr 2240,797,722 (GRCh38)
Highest magnitude
7.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadPossible spastic paraplegia mutation?Very important · 7.0
  2. G;GGoodcommon/normalTypical · 0.0

On SNPedia: (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.31C>T, p.(Arg11Trp) Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegia; implies the minor allele is a dominant mutation.

A;G

Reported in publication cited on main rs-page.

Source and license

Adapted from rs548204329 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.