rs139526942

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

5028124

Gene

NAGPA

is a	snp
is	mentioned by
dbSNP	rs139526942
dbSNP (classic)	rs139526942
ClinGen	rs139526942
ebi	rs139526942
HLI	rs139526942
Exac	rs139526942
Gnomad	rs139526942
Varsome	rs139526942
LitVar	rs139526942
Map	rs139526942
PheGenI	rs139526942
Biobank	rs139526942
1000 genomes	rs139526942
hgdp	rs139526942
ensembl	rs139526942
geneview	rs139526942
scholar	rs139526942
google	rs139526942
pharmgkb	rs139526942
gwascentral	rs139526942
openSNP	rs139526942
23andMe	rs139526942
SNPshot	rs139526942
SNPdbe	rs139526942
MSV3d	rs139526942
GWAS Ctlg	rs139526942

Max Magnitude

2.9

rs139526942, also known as c.982C>T, Arg328Cys or R328C, is a variant in the NAGPA gene on chromosome 16.

The minor (A) allele of rs139526942 was reported as a mutation in the NAGPA gene associated with stuttering in a 2010 study. [PMID 20147709]

ClinVar
Risk	Rs139526942(A;A)
Alt	Rs139526942(A;A)
Reference	Rs139526942(G;G)
Significance	Unknown
Disease	Stuttering
Variation	info
Gene	NAGPA
CLNDBN	Stuttering, familial persistent 2
Reversed	0
HGVS	NC_000016.9:g.5078125G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023672.2,