rs138491271
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 6 | Friedreich's ataxia |
| (-;C) | 3 | carrier of a Friedreich's ataxia allele |
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 69035900 |
| Gene | FXN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138491271 |
| dbSNP (classic) | rs138491271 |
| ClinGen | rs138491271 |
| ebi | rs138491271 |
| HLI | rs138491271 |
| Exac | rs138491271 |
| Gnomad | rs138491271 |
| Varsome | rs138491271 |
| LitVar | rs138491271 |
| Map | rs138491271 |
| PheGenI | rs138491271 |
| Biobank | rs138491271 |
| 1000 genomes | rs138491271 |
| hgdp | rs138491271 |
| ensembl | rs138491271 |
| geneview | rs138491271 |
| scholar | rs138491271 |
| rs138491271 | |
| pharmgkb | rs138491271 |
| gwascentral | rs138491271 |
| openSNP | rs138491271 |
| 23andMe | rs138491271 |
| SNPshot | rs138491271 |
| SNPdbe | rs138491271 |
| MSV3d | rs138491271 |
| GWAS Ctlg | rs138491271 |
| Max Magnitude | 6 |
rs138491271, also known as c.118 delC or p.R40VfsX36, 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.
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs138491271(C;C) |
| Significance | Pathogenic |
| Disease | Friedreich ataxia 1 |
| Variation | info |
| Gene | FXN |
| CLNDBN | Friedreich ataxia 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.71650816delC |
| CLNSRC | |
| CLNACC | |
[PMID 10982187] Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
