Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2074356
rs2074356
HECTD4
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		T 0.800 GeneticVariation GWASCAT For waist-hip ratio, variants on chromosome 12q24 (rs2074356, P = 7.8 x 10(-12)) showed convincing associations, although no regional transcript has strong biological candidacy. 19396169

2009
dbSNP: rs2074356
rs2074356
HECTD4
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		T 0.800 GeneticVariation GWASCAT Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. 21270382

2011
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: 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: rs2074356
rs2074356
HECTD4
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		T 0.800 GeneticVariation GWASCAT Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 21642993

2011
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 21642993

2011
dbSNP: rs2074356
rs2074356
HECTD4
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		T 0.800 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: 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: 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: 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: rs11066280
rs11066280
HECTD4
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		A 0.800 GeneticVariation GWASCAT Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097

2012
dbSNP: rs2074356
rs2074356
HECTD4
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		A 0.800 GeneticVariation GWASCAT Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 22797727

2012
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0013124
Disease: Drinking behavior processes
Drinking behavior processes 		T 0.800 GeneticVariation GWASCAT The association results of drinking behavior (drinkers or nondrinkers) showed a cluster of single nucleotide polymorphisms at 12q24 in discovery (P < 5 × 10(-8)), with the strongest association for rs11066280 near C12orf51 (P-combined = 3.26 × 10(-215)). 23364009

2013
dbSNP: rs2074356
rs2074356
HECTD4
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.810 GeneticVariation GWASCAT New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population. 23575436

2013
dbSNP: rs11066280
rs11066280
HECTD4
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		T 0.710 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 		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: 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 		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: 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: 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: 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: 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