FAR1, fatty acyl-CoA reductase 1, 84188

N. diseases: 22; N. variants: 3
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159963
rs724159963
Entrez Id: 84188
Gene Symbol: FAR1
FAR1
CUI: C4015344
Disease:
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		0.800 GeneticVariation UNIPROT A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. 25439727 2014
dbSNP: rs724159963
rs724159963
Entrez Id: 84188
Gene Symbol: FAR1
FAR1
CUI: C4015344
Disease:
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		G 0.800 CausalMutation CLINVAR
dbSNP: rs724159962
rs724159962
Entrez Id: 84188
Gene Symbol: FAR1
FAR1
CUI: C4015344
Disease:
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		T 0.700 CausalMutation CLINVAR
dbSNP: rs727502796
rs727502796
Entrez Id: 84188
Gene Symbol: FAR1
FAR1
CUI: C4015344
Disease:
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		T 0.700 CausalMutation CLINVAR