Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139640763
rs139640763
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs141278078
rs141278078
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs200678853
rs200678853
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs372479885
rs372479885
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs536656846
rs536656846
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs542940704
rs542940704
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs550237440
rs550237440
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs556450190
rs556450190
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs566579877
rs566579877
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs760021635
rs760021635
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. 26544806 2015
dbSNP: rs148499164
rs148499164
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs1555462184
rs1555462184
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		CTA 0.700 GeneticVariation CLINVAR
dbSNP: rs1567230528
rs1567230528
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3151056
Disease:
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567230528
rs1567230528
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0036572
Disease:
Seizures 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs754944429
rs754944429
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0037772
Disease:
Spastic Paraplegia 		CTATGT 0.700 CausalMutation CLINVAR
dbSNP: rs766696884
rs766696884
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs767423538
rs767423538
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs780520338
rs780520338
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs866266998
rs866266998
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C3489627
Disease:
Stuttering, Familial Persistent 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs556450190
rs556450190
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0038506
Disease:
Stuttering 		0.010 GeneticVariation BEFREE Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering. 26544806 2015
dbSNP: rs556450190
rs556450190
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0751529
Disease:
Stuttering, Developmental 		0.010 GeneticVariation BEFREE Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering. 26544806 2015
dbSNP: rs760021635
rs760021635
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0038506
Disease:
Stuttering 		0.010 GeneticVariation BEFREE Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering. 26544806 2015
dbSNP: rs760021635
rs760021635
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0751529
Disease:
Stuttering, Developmental 		0.010 GeneticVariation BEFREE Whole-exome sequencing identified two heterozygous AP4E1 coding variants, c.1549G>A (p.Val517Ile) and c.2401G>A (p.Glu801Lys), that co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observed the same two variants in unrelated Cameroonians with persistent stuttering. 26544806 2015
dbSNP: rs1313275799
rs1313275799
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		0.010 GeneticVariation BEFREE A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171 2013
dbSNP: rs1313275799
rs1313275799
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0026918
Disease:
Mycobacterium Infections 		0.010 GeneticVariation BEFREE A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171 2013