rs1562168768, QRSL1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial cardiomyopathy
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131 2018
Mitochondrial cardiomyopathy
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
0.700 CausalMutation CLINVAR A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016