Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1324805
rs1324805
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE We have analyzed the association between the common single nucleotide polymorphism (SNP) (rs1324805, C to T substitution) in the first intron of the FACL4 gene and MetS or DD. 19346733 2009
dbSNP: rs1364685385
rs1364685385
Entrez Id: 2182;23630
Gene Symbol: ACSL4;KCNE5
ACSL4;KCNE5
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE The human AF-associated mutation KCNE5-L65F negative shifted the voltage dependence of K<sub>V</sub>2.1-KCNE5 channels, increasing their maximum current density >2-fold, whereas BrS-associated KCNE5 mutations produced more subtle negative shifts in K<sub>V</sub>2.1 voltage dependence. 30289750 2019
dbSNP: rs122458138
rs122458138
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C1845672
Disease:
Mental Retardation, X-Linked 63
T 0.800 CausalMutation CLINVAR
dbSNP: rs122458139
rs122458139
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C1845672
Disease:
Mental Retardation, X-Linked 63
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569423317
rs1569423317
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C1845672
Disease:
Mental Retardation, X-Linked 63
C 0.700 CausalMutation CLINVAR
dbSNP: rs122458138
rs122458138
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C1845672
Disease:
Mental Retardation, X-Linked 63
0.800 GeneticVariation UNIPROT FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
dbSNP: rs753267653
rs753267653
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT