rs556450190

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
google	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,