Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562168768
rs1562168768
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1
CUI: C3532239
Disease:
Mitochondrial cardiomyopathy 		T 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131 2018
dbSNP: rs1562169661
rs1562169661
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1
CUI: C3532239
Disease:
Mitochondrial cardiomyopathy 		ACAAAAATCA 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131 2018
dbSNP: rs1562173313
rs1562173313
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1
CUI: C3532239
Disease:
Mitochondrial cardiomyopathy 		TT 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131 2018
dbSNP: rs763443331
rs763443331
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1
CUI: C3532239
Disease:
Mitochondrial cardiomyopathy 		A 0.700 CausalMutation CLINVAR Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. 30283131 2018
dbSNP: rs1562168768
rs1562168768
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1
CUI: C3532239
Disease:
Mitochondrial cardiomyopathy 		T 0.700 CausalMutation CLINVAR A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs1026619
rs1026619
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1
CUI: C0200635
Disease:
Lymphocyte Count measurement 		0.700 GeneticVariation GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012