rs104894108

A SNP in the FXN gene on chromosome 9. Its most notable genotype is A;A: Friedreich's ataxia

Gene
FXN
Location
Chr 969,035,785 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadFriedreich's ataxiaVery important · 6.0
  2. A;GBadcarrier of a Friedreich's ataxia alleleImportant · 3.0
  3. A;TBadFriedreich's ataxiaVery important · 6.0
  4. G;GGoodcommon in clinvarTypical · 0.0
  5. G;TBadcarrier of a Friedreich's ataxia alleleImportant · 3.0
  6. T;TBadFriedreich's ataxiaVery important · 6.0

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

Conditions, medicines and genes

Other FXN SNPs

All FXN SNPs

Notes

From SNPedia

Notes

rs104894108 is a mutation in the FXN gene on chromosome 9. *c.3 G>A or p.M1I is referred to as i4990164 by 23andMe. *c.3 G>T or p.M1I The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies. Frataxin fracas. Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor. Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor. Mutation detection in an equivocal case of Friedreich's ataxia.

Source and license

Adapted from rs104894108 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.