Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933391
rs28933391
PDHB
0.800 GeneticVariation UNIPROT Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. 15138885

2004
dbSNP: rs28933391
rs28933391
PDHB
A 0.800 CausalMutation CLINVAR

dbSNP: rs28935769
rs28935769
PDHB
C 0.800 CausalMutation CLINVAR

dbSNP: rs28935769
rs28935769
PDHB
0.800 GeneticVariation UNIPROT