rs137853823

minus

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

12

Position

101765042

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs137853823
dbSNP (classic)	rs137853823
ClinGen	rs137853823
ebi	rs137853823
HLI	rs137853823
Exac	rs137853823
Gnomad	rs137853823
Varsome	rs137853823
LitVar	rs137853823
Map	rs137853823
PheGenI	rs137853823
Biobank	rs137853823
1000 genomes	rs137853823
hgdp	rs137853823
ensembl	rs137853823
geneview	rs137853823
scholar	rs137853823
google	rs137853823
pharmgkb	rs137853823
gwascentral	rs137853823
openSNP	rs137853823
23andMe	rs137853823
SNPshot	rs137853823
SNPdbe	rs137853823
MSV3d	rs137853823
GWAS Ctlg	rs137853823

Max Magnitude

2.9

rs137853823, also known as c.1875C>G, Phe624Leu or F624L, is a variant in the GNPTAB gene on chromosome 12.

The minor (G) allele of rs137853823, as oriented on the reverse strand, was a 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	rs137853823(A;A) Rs137853823(G;G)
Alt	rs137853823(A;A) Rs137853823(G;G)
Reference	Rs137853823(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	GNPTAB
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.102158820G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058934.1,