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

rs139526942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.9 possible association with stuttering
(A;G) 2.9 possible association with stuttering
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position5028124
GeneNAGPA
is asnp
is mentioned by
dbSNPrs139526942
ebirs139526942
HLIrs139526942
Exacrs139526942
Varsomers139526942
Maprs139526942
PheGenIrs139526942
hapmaprs139526942
1000 genomesrs139526942
hgdprs139526942
ensemblrs139526942
gopubmedrs139526942
geneviewrs139526942
scholarrs139526942
googlers139526942
pharmgkbrs139526942
gwascentralrs139526942
openSNPrs139526942
23andMers139526942
23andMe allrs139526942
SNP Nexus

SNPshotrs139526942
SNPdbers139526942
MSV3drs139526942
GWAS Ctlgrs139526942
Max Magnitude2.9
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 20147709OA-icon.png]


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
CLNACC RCV000023672.2,