rs137853826
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.9 | possible association with stuttering |
| (A;C) | 2.9 | possible association with stuttering |
| (C;C) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 1352123 |
| Gene | GNPTG, TSR3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853826 |
| dbSNP (classic) | rs137853826 |
| ClinGen | rs137853826 |
| ebi | rs137853826 |
| HLI | rs137853826 |
| Exac | rs137853826 |
| Gnomad | rs137853826 |
| Varsome | rs137853826 |
| LitVar | rs137853826 |
| Map | rs137853826 |
| PheGenI | rs137853826 |
| Biobank | rs137853826 |
| 1000 genomes | rs137853826 |
| hgdp | rs137853826 |
| ensembl | rs137853826 |
| geneview | rs137853826 |
| scholar | rs137853826 |
| rs137853826 | |
| pharmgkb | rs137853826 |
| gwascentral | rs137853826 |
| openSNP | rs137853826 |
| 23andMe | rs137853826 |
| SNPshot | rs137853826 |
| SNPdbe | rs137853826 |
| MSV3d | rs137853826 |
| GWAS Ctlg | rs137853826 |
| Max Magnitude | 2.9 |
rs137853826, also known as c.74C>A, Ala25Glu or A25E, is a variant in the TSR3 gene on chromosome 16.
The minor (A) allele of rs137853826 was reported as a mutation in the GNPTG gene associated with stuttering in a 2010 study. [PMID 20147709
]
| ClinVar | |
|---|---|
| Risk | Rs137853826(A;A) |
| Alt | Rs137853826(A;A) |
| Reference | Rs137853826(C;C) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | GNPTG TSR3 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.1402124C>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000058937.1, |
