rs2074356, HECTD4

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
0.810 GeneticVariation BEFREE However, even in never-drinkers, minor allele homozygote strongly influenced T2D risk reduction (rs2074356 for AA: HR = 0.35, 95% CI = 0.14-0.90, and p-trend = 0.0035 in men and HR = 0.34, 95% CI = 0.13-0.93, and p-trend = 0.2348 in women; rs11066280 for AA: HR = 0.36, 95% CI = 0.16-0.82, and p-trend = 0.0014 in men and HR = 0.39, 95% CI = 0.16-0.95, and p-trend = 0.3790 in women), while alcohol consumption did not influence the risk of T2D within each genotype. rs2074356 and rs11066280 in or near C12orf51, which is related to alcohol drinking behavior, may longitudinally decrease the risk of T2D, but not through regulation of alcohol consumption. 26891264 2016
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
0.810 GeneticVariation GWASDB 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
High density lipoprotein measurement
0.800 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
0.800 GeneticVariation GWASCAT Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. 28485404 2017
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
0.800 GeneticVariation GWASDB Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. 23555315 2013
Blood urea nitrogen measurement
CUI: C0005845
Disease: Blood urea nitrogen measurement
0.800 GeneticVariation GWASCAT Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 22797727 2012
Blood urea nitrogen measurement
CUI: C0005845
Disease: Blood urea nitrogen measurement
0.800 GeneticVariation GWASDB Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 22797727 2012
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
0.800 GeneticVariation GWASCAT Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. 21270382 2011
High density lipoprotein measurement
0.800 GeneticVariation GWASCAT Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 2011
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
0.800 GeneticVariation GWASCAT Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 21642993 2011
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
0.800 GeneticVariation GWASDB Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. 21270382 2011
High density lipoprotein measurement
0.800 GeneticVariation GWASDB Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 2011
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
0.800 GeneticVariation GWASDB Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles. 20833657 2010
Waist-Hip Ratio
CUI: C0205682
Disease: Waist-Hip Ratio
0.800 GeneticVariation GWASDB 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
Waist-Hip Ratio
CUI: C0205682
Disease: Waist-Hip Ratio
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
Metabolic Syndrome X
CUI: C0524620
Disease: 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
Mean Corpuscular Volume (result)
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.700 GeneticVariation GWASDB A genome-wide association study of a coronary artery disease risk variant. 23364394 2013
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.700 GeneticVariation GWASDB Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. 23377640 2013
Drinking behavior processes
CUI: C0013124
Disease: Drinking behavior processes
0.700 GeneticVariation GWASDB Common variants at 12q24 are associated with drinking behavior in Han Chinese. 23364009 2013
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.700 GeneticVariation GWASDB Genome-wide association study of coronary artery disease in the Japanese. 21971053 2012
Serum gamma-glutamyl transferase measurement
0.700 GeneticVariation GWASCAT Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 2011
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
0.700 GeneticVariation GWASDB Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 21642993 2011
Gamma glutamyl transferase measurement
0.700 GeneticVariation GWASDB Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 2011