rs147211454
A SNP in the FXN gene on chromosome 9. Its most notable genotype is -;-: Friedreich's ataxia
- Gene
- FXN
- Location
- Chr 969,053,216 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadFriedreich's ataxia
- -Badcarrier of a Friedreich's ataxia allele
- GCAGACAAGCCAT;GCAGACAAGCCATGoodcommon in clinvar
On SNPedia: (-;-), (-), (GCAGACAAGCCAT;GCAGACAAGCCAT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other FXN SNPs
- rs56214919G;GFriedreich's ataxiaVery important
- rs104894105C;CFriedreich's ataxiaVery important
- rs104894106T;TFriedreich's ataxiaVery important
- rs104894107T;TFriedreich's ataxiaVery important
- rs104894108A;AFriedreich's ataxiaVery important
- rs138034837T;TFriedreich's ataxiaVery important
- rs138446138-;-Friedreich's ataxiaVery important
- rs138471431C;CFriedreich's ataxiaVery important
Notes
From SNPedia
Notes
rs147211454, also known as c.340_352 del13 or p.A114TfsX15, is a mutation in the FXN gene on chromosome 9. The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.
Source and license
Adapted from rs147211454 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.