rs137853824

minus

Geno	Mag	Summary
(A;A)	0	common/normal
(A;G)	2.9	possible association with stuttering
(G;G)	2.9	possible association with stuttering

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

101770558

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs137853824
dbSNP (classic)	rs137853824
ClinGen	rs137853824
ebi	rs137853824
HLI	rs137853824
Exac	rs137853824
Gnomad	rs137853824
Varsome	rs137853824
LitVar	rs137853824
Map	rs137853824
PheGenI	rs137853824
Biobank	rs137853824
1000 genomes	rs137853824
hgdp	rs137853824
ensembl	rs137853824
geneview	rs137853824
scholar	rs137853824
google	rs137853824
pharmgkb	rs137853824
gwascentral	rs137853824
openSNP	rs137853824
23andMe	rs137853824
SNPshot	rs137853824
SNPdbe	rs137853824
MSV3d	rs137853824
GWAS Ctlg	rs137853824

Max Magnitude

2.9

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 20147709 ]

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,