rs6539137
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | increased risk for and earlier onset in males of familial ALS | |
| (A;T) | ||
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 104313402 |
| Gene | TXNRD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6539137 |
| dbSNP (classic) | rs6539137 |
| ClinGen | rs6539137 |
| ebi | rs6539137 |
| HLI | rs6539137 |
| Exac | rs6539137 |
| Gnomad | rs6539137 |
| Varsome | rs6539137 |
| LitVar | rs6539137 |
| Map | rs6539137 |
| PheGenI | rs6539137 |
| Biobank | rs6539137 |
| 1000 genomes | rs6539137 |
| hgdp | rs6539137 |
| ensembl | rs6539137 |
| geneview | rs6539137 |
| scholar | rs6539137 |
| rs6539137 | |
| pharmgkb | rs6539137 |
| gwascentral | rs6539137 |
| openSNP | rs6539137 |
| 23andMe | rs6539137 |
| SNPshot | rs6539137 |
| SNPdbe | rs6539137 |
| MSV3d | rs6539137 |
| GWAS Ctlg | rs6539137 |
| GMAF | 0.0528 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18996185] rs6539137 is one of several TXNRD1 SNPs significantly associated with familial amyotrophic lateral sclerosis (FALS) but not sporadic amyotrophic lateral sclerosis (ALS). The risk allele, rs6539137(A), is also associated with an earlier age of onset by 8 years, and the shift was more significant in males (in fact, insignificant in females).
