Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799983
rs1799983
NOS3
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		T 0.780 GeneticVariation GWASCAT We identified an exonic polymorphism in NOS3 (rs1799983, p.Glu298Asp; p = 2.2E-8, odds ratio [OR] = 1.05, 95% confidence interval [CI] = 1.04-1.07) and variants in an intron of COL4A1 (rs9521634; p = 3.8E-8, OR = 1.04, 95% CI = 1.03-1.06) and near DYRK1A (rs720470; p = 6.1E-9, OR = 1.05, 95% CI = 1.03-1.07) at genome-wide significance for stroke. 30383316

2018
dbSNP: rs2070744
rs2070744
NOS3
CUI: C3149657
Disease: CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO
CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO 		C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs3918198
rs3918198
NOS3
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0013595
Disease: Eczema
Eczema 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3918226
rs3918226
NOS3
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: rs3918226
rs3918226
NOS3
CUI: C0005612
Disease: Birth Weight
Birth Weight 		C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758

2019
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858

2018
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858

2018
dbSNP: rs3918226
rs3918226
NOS3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761

2018
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018
dbSNP: rs3918226
rs3918226
NOS3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs3918226
rs3918226
NOS3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975

2017
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878

2017
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976

2017
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878

2017
dbSNP: rs3918226
rs3918226
NOS3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387

2015
dbSNP: rs3918226
rs3918226
NOS3
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 GeneticVariation GWASDB Blood pressure loci identified with a gene-centric array. 22100073

2011
dbSNP: rs891511
rs891511
NOS3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs891511
rs891511
NOS3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448

2016