Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776441
rs587776441
ND1 ; TRNV
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		T 0.700 CausalMutation CLINVAR A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. 9270602

1997