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, |