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rs760021635

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
Position50958492
GeneAP4E1
is asnp
is mentioned by
dbSNPrs760021635
ebirs760021635
HLIrs760021635
Exacrs760021635
Varsomers760021635
Maprs760021635
PheGenIrs760021635
hapmaprs760021635
1000 genomesrs760021635
hgdprs760021635
ensemblrs760021635
gopubmedrs760021635
geneviewrs760021635
scholarrs760021635
googlers760021635
pharmgkbrs760021635
gwascentralrs760021635
openSNPrs760021635
23andMers760021635
23andMe allrs760021635
SNP Nexus

SNPshotrs760021635
SNPdbers760021635
MSV3drs760021635
GWAS Ctlgrs760021635
Max Magnitude2.9
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,