PPA2, inorganic pyrophosphatase 2, 27068

N. diseases: 15; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139076647
rs139076647
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. 27523598 2016
dbSNP: rs139076647
rs139076647
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 27523597 2016
dbSNP: rs146013446
rs146013446
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 27523597 2016
dbSNP: rs146013446
rs146013446
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310663
Disease:
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		0.800 GeneticVariation UNIPROT Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 27523597 2016
dbSNP: rs146013446
rs146013446
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. 27523598 2016
dbSNP: rs546693824
rs546693824
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 27523597 2016
dbSNP: rs546693824
rs546693824
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. 27523598 2016
dbSNP: rs1057517678
rs1057517678
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057517678
rs1057517678
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057517679
rs1057517679
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057517679
rs1057517679
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057517680
rs1057517680
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057517680
rs1057517680
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 GeneticVariation UNIPROT
dbSNP: rs139076647
rs139076647
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs139076647
rs139076647
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs146013446
rs146013446
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310663
Disease:
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		T 0.800 CausalMutation CLINVAR
dbSNP: rs146013446
rs146013446
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs546693824
rs546693824
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C4310664
Disease:
SUDDEN CARDIAC FAILURE, INFANTILE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs148389026
rs148389026
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2726453
rs2726453
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs72954323
rs72954323
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2636699
rs2636699
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs2726528
rs2726528
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs9992793
rs9992793
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs9992793
rs9992793
Entrez Id: 27068
Gene Symbol: PPA2
PPA2
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018