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rs556450190

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
Chromosome15
Position50997380
GeneAP4E1
is asnp
is mentioned by
dbSNPrs556450190
ebirs556450190
HLIrs556450190
Exacrs556450190
Varsomers556450190
Maprs556450190
PheGenIrs556450190
hapmaprs556450190
1000 genomesrs556450190
hgdprs556450190
ensemblrs556450190
gopubmedrs556450190
geneviewrs556450190
scholarrs556450190
googlers556450190
pharmgkbrs556450190
gwascentralrs556450190
openSNPrs556450190
23andMers556450190
23andMe allrs556450190
SNP Nexus

SNPshotrs556450190
SNPdbers556450190
MSV3drs556450190
GWAS Ctlgrs556450190
Max Magnitude2.9
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,