rs143232208
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 6 | Friedreich's ataxia |
| (-;TC) | 3 | carrier of a Friedreich's ataxia allele |
| (CT;CT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| (TC;TC) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 69035793 |
| Gene | FXN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143232208 |
| dbSNP (classic) | rs143232208 |
| ClinGen | rs143232208 |
| ebi | rs143232208 |
| HLI | rs143232208 |
| Exac | rs143232208 |
| Gnomad | rs143232208 |
| Varsome | rs143232208 |
| LitVar | rs143232208 |
| Map | rs143232208 |
| PheGenI | rs143232208 |
| Biobank | rs143232208 |
| 1000 genomes | rs143232208 |
| hgdp | rs143232208 |
| ensembl | rs143232208 |
| geneview | rs143232208 |
| scholar | rs143232208 |
| rs143232208 | |
| pharmgkb | rs143232208 |
| gwascentral | rs143232208 |
| openSNP | rs143232208 |
| 23andMe | rs143232208 |
| SNPshot | rs143232208 |
| SNPdbe | rs143232208 |
| MSV3d | rs143232208 |
| GWAS Ctlg | rs143232208 |
| Max Magnitude | 6 |
rs143232208, also known as c.11-12 delTC or p.L4RfsX88, 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 | Rs143232208(-;-) |
| Alt | Rs143232208(-;-) |
| Reference | Rs143232208(CT;CT) |
| Significance | Probable-Pathogenic |
| Disease | Cardiovascular phenotype |
| Variation | info |
| Gene | FXN |
| CLNDBN | Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000009.11:g.71650709_71650710delTC |
| CLNSRC | |
| CLNACC | RCV000245003.1, |
[PMID 15376485] Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
