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rs137853824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 2.9 possible association with stuttering
(G;G) 2.9 possible association with stuttering
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position101770558
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137853824
ebirs137853824
HLIrs137853824
Exacrs137853824
Varsomers137853824
Maprs137853824
PheGenIrs137853824
hapmaprs137853824
1000 genomesrs137853824
hgdprs137853824
ensemblrs137853824
gopubmedrs137853824
geneviewrs137853824
scholarrs137853824
googlers137853824
pharmgkbrs137853824
gwascentralrs137853824
openSNPrs137853824
23andMers137853824
23andMe allrs137853824
SNP Nexus

SNPshotrs137853824
SNPdbers137853824
MSV3drs137853824
GWAS Ctlgrs137853824
Max Magnitude2.9
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 20147709OA-icon.png]


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,