ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: MELAS Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474821
rs199474821
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C0162671
Disease:
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