Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1005902
rs1005902
HECTD4
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		G 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448

2016
dbSNP: rs11066188
rs11066188
HECTD4
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 GeneticVariation GWASCAT Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. 26546613

2016
dbSNP: rs11066188
rs11066188
HECTD4
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans. 27736895

2016
dbSNP: rs11066188
rs11066188
HECTD4
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.700 GeneticVariation GWASCAT Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. 26546613

2016
dbSNP: rs11066194
rs11066194
HECTD4
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.700 GeneticVariation GWASCAT Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population. 30382898

2018
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733

2019
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733

2019
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733

2019
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443

2018
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		A 0.700 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899

2017
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		T 0.700 GeneticVariation GWASCAT Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations. 26582766

2016
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183

2015
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. 26390057

2015
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. 26390057

2015
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183

2015
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.700 GeneticVariation GWASCAT In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < 5 × 10(-6)), and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < 1.38 × 10(-7), Bonferroni-adjusted p < 0.05). 25705158

2014
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 21572416

2011
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		A 0.700 GeneticVariation GWASCAT Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109

2011
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 21572416

2011
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		A 0.700 GeneticVariation GWASCAT Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109

2011
dbSNP: rs2074356
rs2074356
HECTD4
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.700 GeneticVariation GWASCAT Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population. 30382898

2018
dbSNP: rs2074356
rs2074356
HECTD4
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		A 0.700 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375

2017
dbSNP: rs2074356
rs2074356
HECTD4
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		T 0.700 GeneticVariation GWASCAT Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109

2011
dbSNP: rs2285810
rs2285810
HECTD4
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809

2016
dbSNP: rs2285810
rs2285810
HECTD4
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		T 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809

2016