Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474817
rs199474817
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		C 0.700 CausalMutation CLINVAR A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. 7669057

1995