Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913131
rs121913131
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706 2003
dbSNP: rs121913132
rs121913132
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706 2003
dbSNP: rs121913133
rs121913133
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706 2003
dbSNP: rs121913134
rs121913134
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706 2003
dbSNP: rs121913131
rs121913131
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. 9259266 1997
dbSNP: rs121913132
rs121913132
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. 9259266 1997
dbSNP: rs121913133
rs121913133
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. 9259266 1997
dbSNP: rs121913134
rs121913134
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. 9259266 1997
dbSNP: rs121913131
rs121913131
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. 8651282 1996
dbSNP: rs121913132
rs121913132
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. 8651282 1996
dbSNP: rs121913133
rs121913133
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. 8651282 1996
dbSNP: rs121913134
rs121913134
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. 8651282 1996
dbSNP: rs121913131
rs121913131
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
G 0.800 CausalMutation CLINVAR
dbSNP: rs121913132
rs121913132
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
A 0.800 CausalMutation CLINVAR
dbSNP: rs121913133
rs121913133
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
A 0.800 CausalMutation CLINVAR
dbSNP: rs121913134
rs121913134
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
A 0.800 CausalMutation CLINVAR
dbSNP: rs891954464
rs891954464
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.800 GeneticVariation UNIPROT
dbSNP: rs891954464
rs891954464
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
C 0.800 GeneticVariation CLINVAR
dbSNP: rs113112630
rs113112630
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
A 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: rs371159065
rs371159065
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.700 GeneticVariation UNIPROT Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706 2003
dbSNP: rs759136382
rs759136382
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
T 0.700 CausalMutation CLINVAR Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706 2003
dbSNP: rs773127211
rs773127211
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.700 GeneticVariation UNIPROT Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706 2003
dbSNP: rs371159065
rs371159065
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.700 GeneticVariation UNIPROT Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. 9259266 1997
dbSNP: rs773127211
rs773127211
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.700 GeneticVariation UNIPROT Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. 9259266 1997
dbSNP: rs371159065
rs371159065
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy
0.700 GeneticVariation UNIPROT Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. 8651282 1996