Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12145922
rs12145922
Serum gamma-glutamyl transferase measurement
A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. 22001757

2011

dbSNP: rs10922478
rs10922478
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs10923038
rs10923038
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
C 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653

2018

dbSNP: rs11583393
rs11583393
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
A 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

dbSNP: rs12032672
rs12032672
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs12032672
rs12032672
CUI: C0600298
Disease: Periodontosis
Periodontosis
C 0.700 GeneticVariation GWASCAT Genome-wide association study of periodontal pathogen colonization. 22699663

2012

dbSNP: rs12032672
rs12032672
CUI: C0031099
Disease: Periodontitis
Periodontitis
C 0.700 GeneticVariation GWASCAT Genome-wide association study of periodontal pathogen colonization. 22699663

2012

dbSNP: rs12120466
rs12120466
Autosomal dominant compelling helio ophthalmic outburst syndrome
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016

dbSNP: rs12139208
rs12139208
CUI: C0040420
Disease: Tonometry
Tonometry
T 0.700 GeneticVariation GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010

2018

dbSNP: rs1498911
rs1498911
CUI: C0005890
Disease: Body Height
Body Height
A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196

2017

dbSNP: rs17130142
rs17130142
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.700 GeneticVariation GWASCAT Genome-wide association study of paclitaxel and carboplatin disposition in women with epithelial ovarian cancer. 29367611

2018

dbSNP: rs17130220
rs17130220
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018

dbSNP: rs17130220
rs17130220
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018

dbSNP: rs17426269
rs17426269
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
A 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

dbSNP: rs2179965
rs2179965
CUI: C0027902
Disease: Neuropsychological Tests
Neuropsychological Tests
0.700 GeneticVariation GWASCAT Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. 17903297

2007

dbSNP: rs35638741
rs35638741
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594

2018

dbSNP: rs41461152
rs41461152
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
T 0.700 GeneticVariation GWASCAT A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci. 29891935

2018

dbSNP: rs4411112
rs4411112
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs56391074
rs56391074
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
AT 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016

2018

dbSNP: rs6662386
rs6662386
Prostate specific antigen measurement
C 0.700 GeneticVariation GWASCAT Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. 28139693

2017

dbSNP: rs6691335
rs6691335
Diabetes Mellitus, Non-Insulin-Dependent
C 0.700 GeneticVariation GWASCAT An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. 28566273

2017

dbSNP: rs6698723
rs6698723
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
0.700 GeneticVariation GWASCAT Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. 27082954

2016

dbSNP: rs6699417
rs6699417
CUI: C0005890
Disease: Body Height
Body Height
T 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960

2010

dbSNP: rs7551732
rs7551732
CUI: C0005890
Disease: Body Height
Body Height
A 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103

2014