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rs137853822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 2.9 possible association with stuttering
(T;T) 2.9 possible association with stuttering
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position101768082
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137853822
ebirs137853822
HLIrs137853822
Exacrs137853822
Varsomers137853822
Maprs137853822
PheGenIrs137853822
hapmaprs137853822
1000 genomesrs137853822
hgdprs137853822
ensemblrs137853822
gopubmedrs137853822
geneviewrs137853822
scholarrs137853822
googlers137853822
pharmgkbrs137853822
gwascentralrs137853822
openSNPrs137853822
23andMers137853822
23andMe allrs137853822
SNP Nexus

SNPshotrs137853822
SNPdbers137853822
MSV3drs137853822
GWAS Ctlgrs137853822
Max Magnitude2.9
rs137853822, also known as c.1363G>T, Ala455Ser or A455S, is a variant in the GNPTAB gene on chromosome 12.

The minor (T) allele of rs137853822 was a 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 20147709OA-icon.png]