Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		AC 0.700 CausalMutation CLINVAR Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. 7581383

1995