rs104894106
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | carrier of a Friedreich's ataxia allele |
| (T;T) | 6 | Friedreich's ataxia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 69065013 |
| Gene | FXN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894106 |
| dbSNP (classic) | rs104894106 |
| ClinGen | rs104894106 |
| ebi | rs104894106 |
| HLI | rs104894106 |
| Exac | rs104894106 |
| Gnomad | rs104894106 |
| Varsome | rs104894106 |
| LitVar | rs104894106 |
| Map | rs104894106 |
| PheGenI | rs104894106 |
| Biobank | rs104894106 |
| 1000 genomes | rs104894106 |
| hgdp | rs104894106 |
| ensembl | rs104894106 |
| geneview | rs104894106 |
| scholar | rs104894106 |
| rs104894106 | |
| pharmgkb | rs104894106 |
| gwascentral | rs104894106 |
| openSNP | rs104894106 |
| 23andMe | rs104894106 |
| SNPshot | rs104894106 |
| SNPdbe | rs104894106 |
| MSV3d | rs104894106 |
| GWAS Ctlg | rs104894106 |
| Max Magnitude | 6 |
rs104894106, also known as c.460_A>T or p.I154F, 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.
This SNP is referred to as i5003932 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs104894106(T;T) |
| Alt | Rs104894106(T;T) |
| Reference | Rs104894106(A;A) |
| Significance | Pathogenic |
| Disease | Friedreich's ataxia |
| Variation | info |
| Gene | FXN |
| CLNDBN | Friedreich's ataxia |
| Reversed | 0 |
| HGVS | NC_000009.11:g.71679929A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004188.3, |
[PMID 8596916] Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
[PMID 9700204] Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
