Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.9 possible association with stuttering
(A;C) 2.9 possible association with stuttering
(C;C) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position1352123
GeneGNPTG, TSR3
is asnp
is mentioned by
dbSNPrs137853826
dbSNP (classic)rs137853826
ClinGenrs137853826
ebirs137853826
HLIrs137853826
Exacrs137853826
Gnomadrs137853826
Varsomers137853826
LitVarrs137853826
Maprs137853826
PheGenIrs137853826
Biobankrs137853826
1000 genomesrs137853826
hgdprs137853826
ensemblrs137853826
geneviewrs137853826
scholarrs137853826
googlers137853826
pharmgkbrs137853826
gwascentralrs137853826
openSNPrs137853826
23andMers137853826
SNPshotrs137853826
SNPdbers137853826
MSV3drs137853826
GWAS Ctlgrs137853826
Max Magnitude2.9

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 20147709OA-icon.png]


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,