Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1370579526
rs1370579526
TRIAP1 ; GATC
G 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018
dbSNP: rs1562168768
rs1562168768
QRSL1
T 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018
dbSNP: rs1562169661
rs1562169661
QRSL1
ACAAAAATCA 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018
dbSNP: rs1562173313
rs1562173313
QRSL1
TT 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018
dbSNP: rs376766195
rs376766195
GATB
C 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018
dbSNP: rs565910322
rs565910322
GATB
A 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018
dbSNP: rs763443331
rs763443331
QRSL1
A 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131

2018
dbSNP: rs1562168768
rs1562168768
QRSL1
T 0.700 CausalMutation CLINVAR A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016