rs137853827

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
google	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,