DisGeNET - a database of gene-disease associations

Stuttering, Familial Persistent 1, C3489627

Variant: rs556450190 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs556450190

rs556450190

AP4E1

0.700

GeneticVariation

UNIPROT

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

2015