Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553311804
rs1553311804
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		TA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516991
rs1057516991
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517397
rs1057517397
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs142120825
rs142120825
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553311647
rs1553311647
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs779113356
rs779113356
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
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
dbSNP: rs779113356
rs779113356
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 CausalMutation 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: rs779113356
rs779113356
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
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: rs794727219
rs794727219
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. 7811722 1994
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. 15902556 2005
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. 14630990 2004
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 20583174 2010
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. 8770876 1996
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. 10518281 1999
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 26024122 2015
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.790 CausalMutation CLINVAR Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. 7811722 1994
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.790 CausalMutation CLINVAR Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. 15902556 2005
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.790 CausalMutation CLINVAR Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. 8770876 1996
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.790 CausalMutation CLINVAR Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 20583174 2010
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.790 CausalMutation CLINVAR General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. 14630990 2004
dbSNP: rs1057516233
rs1057516233
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516350
rs1057516350
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1167218743
rs1167218743
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.700 CausalMutation 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: rs1167218743
rs1167218743
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.700 CausalMutation CLINVAR General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. 14630990 2004