Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10769256
rs10769256
SPI1
CUI: C0003467
Disease: Anxiety
Anxiety 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085

2018
dbSNP: rs10769263
rs10769263
SPI1
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs10838702
rs10838702
SPI1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs11039216
rs11039216
SPI1
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418

2019
dbSNP: rs11039216
rs11039216
SPI1
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs11039216
rs11039216
SPI1
CUI: C1623258
Disease: Electrocardiography
Electrocardiography 		T 0.700 GeneticVariation GWASCAT Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study). 29622589

2018
dbSNP: rs140541052
rs140541052
SPI1
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.700 GeneticVariation GWASDB Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis. 22675575

2012
dbSNP: rs142497874
rs142497874
SPI1
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASCAT Very low-depth whole-genome sequencing in complex trait association studies. 30576415

2019
dbSNP: rs3740688
rs3740688
SPI1
CUI: C0003467
Disease: Anxiety
Anxiety 		G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085

2018
dbSNP: rs3740688
rs3740688
SPI1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097

2018
dbSNP: rs3740689
rs3740689
SPI1
CUI: C0040420
Disease: Tonometry
Tonometry 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998

2018
dbSNP: rs4752829
rs4752829
SPI1
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		A 0.700 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399

2018
dbSNP: rs4992357
rs4992357
SPI1
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566

2018
dbSNP: rs1057233
rs1057233
SPI1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation BEFREE The minor allele of rs1057233 (G), within the previously reported CELF1 AD risk locus, showed association with delayed AD onset and lower expression of SPI1 in monocytes and macrophages. 28628103

2017