Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137973334
rs137973334
LIPT1 ; MITD1
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		G 0.800 CausalMutation CLINVAR

dbSNP: rs767568897
rs767568897
LIPT1 ; MITD1
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		T 0.800 CausalMutation CLINVAR

dbSNP: rs786205156
rs786205156
LIPT1 ; MITD1
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		G 0.800 CausalMutation CLINVAR

dbSNP: rs137891647
rs137891647
LIPT1 ; MITD1
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		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