Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35199438
rs35199438
CUI: C0005938
Disease: Bone Density
Bone Density
T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378

2018

dbSNP: rs34156428
rs34156428
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
A 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: rs297346
rs297346
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
A 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: rs297346
rs297346
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
A 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: rs297325
rs297325
CUI: C0028754
Disease: Obesity
Obesity
C 0.700 GeneticVariation GWASCAT Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. 19714249

2009

dbSNP: rs297325
rs297325
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
C 0.700 GeneticVariation GWASCAT Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. 19714249

2009

dbSNP: rs2218001
rs2218001
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
A 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: rs2218001
rs2218001
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
A 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: rs2014408
rs2014408
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: rs2014408
rs2014408
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: rs1837095
rs1837095
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs17462448
rs17462448
RDW - Red blood cell distribution width result
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs17462448
rs17462448
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs17462448
rs17462448
RDW - Red blood cell distribution width result
A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414

2017

dbSNP: rs17462448
rs17462448
Red cell distribution width determination
A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414

2017

dbSNP: rs17462448
rs17462448
Red cell distribution width determination
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs16932777
rs16932777
CUI: C0005938
Disease: Bone Density
Bone Density
C 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378

2018

dbSNP: rs146669915
rs146669915
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418

2019

dbSNP: rs1455115
rs1455115
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1455114
rs1455114
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. 30395268

2018

dbSNP: rs1455114
rs1455114
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. 30395268

2018

dbSNP: rs1401454
rs1401454
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. 23972371

2013

dbSNP: rs1401454
rs1401454
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
T 0.700 GeneticVariation GWASCAT Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. 23972371

2013

dbSNP: rs12801635
rs12801635
CUI: C0005938
Disease: Bone Density
Bone Density
T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378

2018

dbSNP: rs12800049
rs12800049
CUI: C0005938
Disease: Bone Density
Bone Density
T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378

2018