Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		G 0.700 CausalMutation CLINVAR Infantile encephalopathy associated with the MELAS A3243G mutation. 10356136

1999