Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767568897
rs767568897
LIPT1 ; MITD1
0.800 GeneticVariation UNIPROT Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. 24256811

2014
dbSNP: rs767568897
rs767568897
LIPT1 ; MITD1
0.800 GeneticVariation UNIPROT Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 24341803

2013
dbSNP: rs137973334
rs137973334
LIPT1 ; MITD1
0.800 GeneticVariation UNIPROT

dbSNP: rs137973334
rs137973334
LIPT1 ; MITD1
G 0.800 CausalMutation CLINVAR

dbSNP: rs767568897
rs767568897
LIPT1 ; MITD1
T 0.800 CausalMutation CLINVAR

dbSNP: rs786205156
rs786205156
LIPT1 ; MITD1
0.800 GeneticVariation UNIPROT

dbSNP: rs786205156
rs786205156
LIPT1 ; MITD1
G 0.800 CausalMutation CLINVAR

dbSNP: rs137891647
rs137891647
LIPT1 ; MITD1
G 0.700 CausalMutation CLINVAR Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 24341803

2013