rs56214919
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (G;G) | 6 | Friedreich's ataxia |
| (G;T) | 3 | carrier of a Friedreich's ataxia allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 69072646 |
| Gene | FXN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56214919 |
| dbSNP (classic) | rs56214919 |
| ClinGen | rs56214919 |
| ebi | rs56214919 |
| HLI | rs56214919 |
| Exac | rs56214919 |
| Gnomad | rs56214919 |
| Varsome | rs56214919 |
| LitVar | rs56214919 |
| Map | rs56214919 |
| PheGenI | rs56214919 |
| Biobank | rs56214919 |
| 1000 genomes | rs56214919 |
| hgdp | rs56214919 |
| ensembl | rs56214919 |
| geneview | rs56214919 |
| scholar | rs56214919 |
| rs56214919 | |
| pharmgkb | rs56214919 |
| gwascentral | rs56214919 |
| openSNP | rs56214919 |
| 23andMe | rs56214919 |
| SNPshot | rs56214919 |
| SNPdbe | rs56214919 |
| MSV3d | rs56214919 |
| GWAS Ctlg | rs56214919 |
| Max Magnitude | 6 |
rs56214919, also known as c.517 T>G or p.W173G, 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 | Rs56214919(G;G) |
| Alt | Rs56214919(G;G) |
| Reference | Rs56214919(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Friedreich's ataxia |
| Variation | info |
| Gene | FXN |
| CLNDBN | Friedreich's ataxia |
| Reversed | 0 |
| HGVS | NC_000009.11:g.71687562T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004191.1, |
[PMID 9989622] Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
[PMID 17703324] Frataxin gene point mutations in Italian Friedreich ataxia patients.
