rs75485205

A SNP in the SLC2A1 gene on chromosome 1. Its most notable genotype is A;G: GLUT1 deficiency syndrome 1? Feedback sought ...

Gene
SLC2A1
Location
Chr 142,927,224 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadGLUT1 deficiency syndrome 1? Feedback sought ...Important · 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.

Other SLC2A1 SNPs

All SLC2A1 SNPs

Notes

From SNPedia

Notes

SLC2A1 gene, c.1296C>A (p.Tyr432Ter)

A;G

Annotated in ClinVar as a disease-causing (pathogenic) mutation leading to GLUT1 deficiency syndrome 1, but by only one submitter, and this could be a carrier allele for a recessive form of GLUT1 deficiency rather than a dominant mutation (if it's pathogenic at all). Feel free to email SNPedia (info@snpedia.com) if you have this genotype and have a medical history including or not including symptoms of GLUT1 deficiency such as exercise-induced spasms.

Source and license

Adapted from rs75485205 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.