rs556450190
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 | 15 |
Position | 50997380 |
Gene | AP4E1 |
is a | snp |
is | mentioned by |
dbSNP | rs556450190 |
dbSNP (classic) | rs556450190 |
ClinGen | rs556450190 |
ebi | rs556450190 |
HLI | rs556450190 |
Exac | rs556450190 |
Gnomad | rs556450190 |
Varsome | rs556450190 |
LitVar | rs556450190 |
Map | rs556450190 |
PheGenI | rs556450190 |
Biobank | rs556450190 |
1000 genomes | rs556450190 |
hgdp | rs556450190 |
ensembl | rs556450190 |
geneview | rs556450190 |
scholar | rs556450190 |
rs556450190 | |
pharmgkb | rs556450190 |
gwascentral | rs556450190 |
openSNP | rs556450190 |
23andMe | rs556450190 |
SNPshot | rs556450190 |
SNPdbe | rs556450190 |
MSV3d | rs556450190 |
GWAS Ctlg | rs556450190 |
Max Magnitude | 2.9 |
rs556450190, also known as c.2401G>A, p.Glu801Lys or E801K, is a variant in the AP4E1 gene on chromosome 15.
The minor (A) allele of rs556450190 was reported as a mutation in the AP4E1 gene associated with stuttering in a 2015 study. [PMID 26544806]
ClinVar | |
---|---|
Risk | Rs556450190(A;A) |
Alt | Rs556450190(A;A) |
Reference | Rs556450190(G;G) |
Significance | Pathogenic |
Disease | Stuttering |
Variation | info |
Gene | AP4E1 |
CLNDBN | Stuttering, familial persistent 1 |
Reversed | 0 |
HGVS | NC_000015.9:g.51289577G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210065.1, |