rs757332023
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs757332023(A;A) |
| Make rs757332023(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 70212795 |
| Gene | TIA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757332023 |
| dbSNP (classic) | rs757332023 |
| ClinGen | rs757332023 |
| ebi | rs757332023 |
| HLI | rs757332023 |
| Exac | rs757332023 |
| Gnomad | rs757332023 |
| Varsome | rs757332023 |
| LitVar | rs757332023 |
| Map | rs757332023 |
| PheGenI | rs757332023 |
| Biobank | rs757332023 |
| 1000 genomes | rs757332023 |
| hgdp | rs757332023 |
| ensembl | rs757332023 |
| geneview | rs757332023 |
| scholar | rs757332023 |
| rs757332023 | |
| pharmgkb | rs757332023 |
| gwascentral | rs757332023 |
| openSNP | rs757332023 |
| 23andMe | rs757332023 |
| SNPshot | rs757332023 |
| SNPdbe | rs757332023 |
| MSV3d | rs757332023 |
| GWAS Ctlg | rs757332023 |
| Max Magnitude | 0 |
aka p.Pro362Leu or P362L
The rare rs757332023(A) mutation was identified in a family with Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); in general, more TIA1 gene mutations of this type (i.e. located in low-complexity domains of the protein) are found in ALS patients compared to controls (p = 8.7 × 10e−6).10.1016/j.neuron.2017.07.025
