Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0202177
Disease:
Phospholipid measurement 		A 0.800 GeneticVariation GWASDB Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0202177
Disease:
Phospholipid measurement 		0.800 GeneticVariation GWASCAT Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 22359512 2012
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0202177
Disease:
Phospholipid measurement 		0.800 GeneticVariation GWASDB Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. 22359512 2012
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0022661
Disease:
Kidney Failure, Chronic 		A 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C1561643
Disease:
Chronic Kidney Diseases 		A 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs12765052
rs12765052
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0149782
Disease:
Squamous cell 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: rs2278843
rs2278843
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		G 0.700 GeneticVariation GWASCAT A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease. 26503814 2016
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs7079679
rs7079679
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		A 0.700 GeneticVariation GWASCAT A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease. 26503814 2016
dbSNP: rs735877
rs735877
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0428886
Disease:
Mean 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
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0523465
Disease:
Serum albumin measurement 		G 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756 2014
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C1281901
Disease:
Fatty acid measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013
dbSNP: rs7904983
rs7904983
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7909153
rs7909153
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0495706
Disease:
elevated blood glucose level 		A 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
dbSNP: rs603424
rs603424
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0337438
Disease:
Glucose measurement 		A 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
dbSNP: rs1487813753
rs1487813753
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0085413
Disease:
Polycystic Kidney, Autosomal Dominant 		0.010 GeneticVariation BEFREE Furthermore, autosomal dominant polycystic kidney disease-associated TRPP2 mutant T448K significantly weakened TRPP2 homomeric assembly but had no obvious effect on TRPP2-PKD1 heteromeric assembly. 28154010 2017
dbSNP: rs754533102
rs754533102
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE By introduction of gene Msurvivin T34A in combination with chemotherapies in the treatment of lung metastasis tumor, it could greatly reduce systemic toxicity as well as improved the anti-tumor efficiency. 24582554 2014
dbSNP: rs754533102
rs754533102
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0153676
Disease:
Secondary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE By introduction of gene Msurvivin T34A in combination with chemotherapies in the treatment of lung metastasis tumor, it could greatly reduce systemic toxicity as well as improved the anti-tumor efficiency. 24582554 2014
dbSNP: rs1427074798
rs1427074798
Entrez Id: 9033
Gene Symbol: PKD2L1
PKD2L1
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic 		0.010 GeneticVariation BEFREE To investigate the contribution of the TaqI-A and the C957T polymorphisms to the presence of psychopathic traits in patients with alcoholism. 18669994 2008