rs138034837
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of a Friedreich's ataxia allele |
| (T;T) | 6 | Friedreich's ataxia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 69072622 |
| Gene | FXN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138034837 |
| dbSNP (classic) | rs138034837 |
| ClinGen | rs138034837 |
| ebi | rs138034837 |
| HLI | rs138034837 |
| Exac | rs138034837 |
| Gnomad | rs138034837 |
| Varsome | rs138034837 |
| LitVar | rs138034837 |
| Map | rs138034837 |
| PheGenI | rs138034837 |
| Biobank | rs138034837 |
| 1000 genomes | rs138034837 |
| hgdp | rs138034837 |
| ensembl | rs138034837 |
| geneview | rs138034837 |
| scholar | rs138034837 |
| rs138034837 | |
| pharmgkb | rs138034837 |
| gwascentral | rs138034837 |
| openSNP | rs138034837 |
| 23andMe | rs138034837 |
| SNPshot | rs138034837 |
| SNPdbe | rs138034837 |
| MSV3d | rs138034837 |
| GWAS Ctlg | rs138034837 |
| Max Magnitude | 6 |
rs138034837, also known as c.493 C>T or p.R165C, 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 | Rs138034837(T;T) |
| Alt | Rs138034837(T;T) |
| Reference | Rs138034837(C;C) |
| Significance | Pathogenic |
| Disease | Friedreich ataxia 1 |
| Variation | info |
| Gene | FXN |
| CLNDBN | Friedreich ataxia 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.71687538C>T |
| CLNSRC | |
| CLNACC | |
[PMID 10732799] The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
[PMID 10766903
] Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.
