Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474821
rs199474821
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		C 0.700 CausalMutation CLINVAR Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 10371545

1999