rs143340609
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6 | Friedreich's ataxia |
| (C;T) | 3 | carrier of a Friedreich's ataxia allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 69065020 |
| Gene | FXN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143340609 |
| dbSNP (classic) | rs143340609 |
| ClinGen | rs143340609 |
| ebi | rs143340609 |
| HLI | rs143340609 |
| Exac | rs143340609 |
| Gnomad | rs143340609 |
| Varsome | rs143340609 |
| LitVar | rs143340609 |
| Map | rs143340609 |
| PheGenI | rs143340609 |
| Biobank | rs143340609 |
| 1000 genomes | rs143340609 |
| hgdp | rs143340609 |
| ensembl | rs143340609 |
| geneview | rs143340609 |
| scholar | rs143340609 |
| rs143340609 | |
| pharmgkb | rs143340609 |
| gwascentral | rs143340609 |
| openSNP | rs143340609 |
| 23andMe | rs143340609 |
| SNPshot | rs143340609 |
| SNPdbe | rs143340609 |
| MSV3d | rs143340609 |
| GWAS Ctlg | rs143340609 |
| Max Magnitude | 6 |
rs143340609, also known as c.467 T>C or p.L156P, 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 | Rs143340609(C;C) |
| Alt | Rs143340609(C;C) |
| Reference | Rs143340609(T;T) |
| Significance | Pathogenic |
| Disease | Friedreich ataxia 1 |
| Variation | info |
| Gene | FXN |
| CLNDBN | Friedreich ataxia 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.71679936T>C |
| CLNSRC | |
| CLNACC | |
[PMID 9989622] Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
