Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759136382
rs759136382
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
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