Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781205883
rs781205883
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: rs781205883
rs781205883
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: rs781205883
rs781205883
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 12809642

2003
dbSNP: rs781205883
rs781205883
HADHA
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. 10352164

1999