Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516417
rs1057516417
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. 22459206

2012
dbSNP: rs1057516417
rs1057516417
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 21103935

2011
dbSNP: rs1057516417
rs1057516417
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. 21549624

2011
dbSNP: rs1057516417
rs1057516417
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. 7738175

1995