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

rs137853827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 2.9 possible association with stuttering
(G;G) 2.9 possible association with stuttering
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position1362689
GeneGNPTG
is asnp
is mentioned by
dbSNPrs137853827
ebirs137853827
HLIrs137853827
Exacrs137853827
Varsomers137853827
Maprs137853827
PheGenIrs137853827
hapmaprs137853827
1000 genomesrs137853827
hgdprs137853827
ensemblrs137853827
gopubmedrs137853827
geneviewrs137853827
scholarrs137853827
googlers137853827
pharmgkbrs137853827
gwascentralrs137853827
openSNPrs137853827
23andMers137853827
23andMe allrs137853827
SNP Nexus

SNPshotrs137853827
SNPdbers137853827
MSV3drs137853827
GWAS Ctlgrs137853827
Max Magnitude2.9
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 20147709OA-icon.png]


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
CLNACC RCV000058938.1,