rs137853827
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;G) | 2.9 | possible association with stuttering |
(G;G) | 2.9 | possible association with stuttering |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 1362689 |
Gene | GNPTG |
is a | snp |
is | mentioned by |
dbSNP | rs137853827 |
dbSNP (classic) | rs137853827 |
ClinGen | rs137853827 |
ebi | rs137853827 |
HLI | rs137853827 |
Exac | rs137853827 |
Gnomad | rs137853827 |
Varsome | rs137853827 |
LitVar | rs137853827 |
Map | rs137853827 |
PheGenI | rs137853827 |
Biobank | rs137853827 |
1000 genomes | rs137853827 |
hgdp | rs137853827 |
ensembl | rs137853827 |
geneview | rs137853827 |
scholar | rs137853827 |
rs137853827 | |
pharmgkb | rs137853827 |
gwascentral | rs137853827 |
openSNP | rs137853827 |
23andMe | rs137853827 |
SNPshot | rs137853827 |
SNPdbe | rs137853827 |
MSV3d | rs137853827 |
GWAS Ctlg | rs137853827 |
Max Magnitude | 2.9 |
rs137853827, also known as c.688C>G, Leu230Val or L230V, is a variant in the GNPTG gene on chromosome 16.
The minor (G) allele of rs137853827 was reported as a mutation in the GNPTG gene associated with stuttering in a 2010 study. [PMID 20147709]
ClinVar | |
---|---|
Risk | Rs137853827(G;G) |
Alt | Rs137853827(G;G) |
Reference | Rs137853827(C;C) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | GNPTG |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.1412690C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000058938.1, |