rs137853824
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| (A;G) | 2.9 | possible association with stuttering |
| (G;G) | 2.9 | possible association with stuttering |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 101770558 |
| Gene | GNPTAB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853824 |
| dbSNP (classic) | rs137853824 |
| ClinGen | rs137853824 |
| ebi | rs137853824 |
| HLI | rs137853824 |
| Exac | rs137853824 |
| Gnomad | rs137853824 |
| Varsome | rs137853824 |
| LitVar | rs137853824 |
| Map | rs137853824 |
| PheGenI | rs137853824 |
| Biobank | rs137853824 |
| 1000 genomes | rs137853824 |
| hgdp | rs137853824 |
| ensembl | rs137853824 |
| geneview | rs137853824 |
| scholar | rs137853824 |
| rs137853824 | |
| pharmgkb | rs137853824 |
| gwascentral | rs137853824 |
| openSNP | rs137853824 |
| 23andMe | rs137853824 |
| SNPshot | rs137853824 |
| SNPdbe | rs137853824 |
| MSV3d | rs137853824 |
| GWAS Ctlg | rs137853824 |
| Max Magnitude | 2.9 |
rs137853824, also known as c.961A>G, Ser321Gly or S321G, is a variant in the GNPTAB gene on chromosome 12.
The minor (G) allele of rs137853824 was a rare mutation in the GNPTAB gene associated with stuttering in a 2010 study. Note that inheritance was neither dominant or recessive; this variant increased the risk of stuttering when present in either one or two copies, consistent with an additive genetic effect. Female homozygotes were apparently less affected. Note that the proportion of stutterers likely to carry a GNPTAB variant is likely to be less than 4%.[PMID 20147709
]
| ClinVar | |
|---|---|
| Risk | Rs137853824(G;G) |
| Alt | Rs137853824(G;G) |
| Reference | Rs137853824(A;A) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | GNPTAB |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102164336T>C |
| CLNSRC | |
| CLNACC | RCV000058935.1, |
