Disease: MELAS Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192099
rs118192099
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162671
Disease:
MELAS Syndrome 		C 0.700 CausalMutation CLINVAR A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). 1361099 1992