rs760021635

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

50958492

Gene

AP4E1

is a	snp
is	mentioned by
dbSNP	rs760021635
dbSNP (classic)	rs760021635
ClinGen	rs760021635
ebi	rs760021635
HLI	rs760021635
Exac	rs760021635
Gnomad	rs760021635
Varsome	rs760021635
LitVar	rs760021635
Map	rs760021635
PheGenI	rs760021635
Biobank	rs760021635
1000 genomes	rs760021635
hgdp	rs760021635
ensembl	rs760021635
geneview	rs760021635
scholar	rs760021635
google	rs760021635
pharmgkb	rs760021635
gwascentral	rs760021635
openSNP	rs760021635
23andMe	rs760021635
SNPshot	rs760021635
SNPdbe	rs760021635
MSV3d	rs760021635
GWAS Ctlg	rs760021635

Max Magnitude

2.9

rs760021635, also known as c.1549G>A, p.Val517Ile or V517I, is a variant in the AP4E1 gene on chromosome 15.

The minor (A) allele of rs760021635 was reported as a mutation in the AP4E1 gene associated with stuttering in a 2015 study. [PMID 26544806]

ClinVar
Risk	Rs760021635(A;A)
Alt	Rs760021635(A;A)
Reference	Rs760021635(G;G)
Significance	Pathogenic
Disease	Stuttering
Variation	info
Gene	AP4E1
CLNDBN	Stuttering, familial persistent 1
Reversed	0
HGVS	NC_000015.9:g.51250689G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210065.1,