Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12153855
rs12153855
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
C 0.820 GeneticVariation GWASCAT Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10(-7), replication P =3.0 × 10(-4), combined P =1.3 × 10(-9), odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3-1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10(-8), replication P =3.8 × 10(-5), combined P =2.0 × 10(-11), OR = 1.3, 95% CI = 1.2-1.4). 22694956

2012

dbSNP: rs13199524
rs13199524
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.700 GeneticVariation GWASCAT Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis. 30552173

2019

dbSNP: rs2856451
rs2856451
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs9267797
rs9267797
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs8111
rs8111
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs41316748
rs41316748
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs375375234
rs375375234
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs116298992
rs116298992
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018

dbSNP: rs185819
rs185819
CUI: C0005890
Disease: Body Height
Body Height
T 0.700 GeneticVariation GWASCAT Many sequence variants affecting diversity of adult human height. 18391951

2008

dbSNP: rs2857009
rs2857009
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure)
G 0.800 GeneticVariation GWASCAT Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects. 23028341

2012

dbSNP: rs8283
rs8283
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure)
G 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269

2017

dbSNP: rs144433536
rs144433536
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
T 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730

2017

dbSNP: rs369637
rs369637
Child Development Disorders, Pervasive
0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026

2017

dbSNP: rs12153855
rs12153855
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
T 0.800 GeneticVariation GWASCAT A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. 23886662

2013

dbSNP: rs41268896
rs41268896
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
A 0.700 GeneticVariation GWASCAT Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. 25574825

2015

dbSNP: rs2021783
rs2021783
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
C 0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183

2015

dbSNP: rs2856451
rs2856451
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs2021783
rs2021783
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
C 0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183

2015

dbSNP: rs1150754
rs1150754
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
A 0.810 GeneticVariation GWASCAT Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207

2011

dbSNP: rs1150757
rs1150757
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. 27399966

2016

dbSNP: rs1150757
rs1150757
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
A 0.700 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338

2015

dbSNP: rs1150755
rs1150755
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
T 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017

dbSNP: rs1150753
rs1150753
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation GWASCAT Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry. 26316170

2016

dbSNP: rs34214527
rs34214527
CUI: C0596887
Disease: mathematical ability
mathematical ability
C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018

dbSNP: rs204883
rs204883
CUI: C0596887
Disease: mathematical ability
mathematical ability
A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018