rs139526942
From SNPedia
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 |
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, |