rs12229654, None

N. diseases: 20
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Diabetes Mellitus, Non-Insulin-Dependent
0.800 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
0.800 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 GWASDB Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 21909109 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
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
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
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
0.700 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668 2017
Body mass index procedure
CUI: C0005893
Disease: Body mass index procedure
0.700 GeneticVariation GWASDB The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women. 24861553 2014
Finding of body mass index
CUI: C0578022
Disease: Finding of body mass index
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. 24861553 2014
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women. 24861553 2014
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
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
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
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
Serum HDL cholesterol measurement
CUI: C0428472
Disease: Serum HDL cholesterol measurement
0.700 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
0.700 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
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE The polymorphism rs12229654 was thus associated with both systolic and diastolic blood pressure and with hypertension. 28562329 2017
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093395 (TREML2), and rs17249754 (ATP2B1), were found to be associated with hypertension mostly in men (P = 4.76 × 10(-14) to 4.46 × 10(-7) in the joint analysis); three SNPs (rs11066280, rs12229654, and rs3782889) remained significant after Bonferroni correction in an independent population. 24142389 2014
Hyper LDL cholesterolaemia
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
0.010 GeneticVariation BEFREE Two single nucleotide polymorphisms (rs10790162, rs7350481) were significantly related to both serum triglycerides and hypertriglyceridemia; three polymorphisms (rs146515657, rs147317864, rs12229654) were significantly related to both serum HDL-cholesterol and hypo-HDL-cholesterolemia; and six polymorphisms (rs2853969, rs7771335, rs2071653, rs2269704, rs2269703, rs2269702) were significantly related to both serum LDL-cholesterol and hyper-LDL-cholesterolemia. 28473662 2017
Hypo HDL cholesterolaemia
CUI: C2609107
Disease: Hypo HDL cholesterolaemia
0.010 GeneticVariation BEFREE Two single nucleotide polymorphisms (rs10790162, rs7350481) were significantly related to both serum triglycerides and hypertriglyceridemia; three polymorphisms (rs146515657, rs147317864, rs12229654) were significantly related to both serum HDL-cholesterol and hypo-HDL-cholesterolemia; and six polymorphisms (rs2853969, rs7771335, rs2071653, rs2269704, rs2269703, rs2269702) were significantly related to both serum LDL-cholesterol and hyper-LDL-cholesterolemia. 28473662 2017
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
0.010 GeneticVariation BEFREE Three gene variants, rs12229654, rs17249754, and rs11066280, were significantly associated with metabolic disorders such as hyperlipidemia and diabetes (P = 0.00071 to 0.0097, respectively). 24142389 2014
Diabetes
CUI: C0011847
Disease: Diabetes
0.010 GeneticVariation BEFREE Three gene variants, rs12229654, rs17249754, and rs11066280, were significantly associated with metabolic disorders such as hyperlipidemia and diabetes (P = 0.00071 to 0.0097, respectively). 24142389 2014