rs17249754, ATP2B1

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Waist-Hip Ratio
CUI: C0205682
Disease: Waist-Hip Ratio
0.700 GeneticVariation GWASDB A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. 19396169 2009
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation BEFREE All studies evaluating the association between rs2681472 (rs17249754 or rs11105378) and hypertension risk in East Asians were included. 22229515 2012
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation BEFREE An additional hypertension case-control study confirmed that rs17249754 (in ATP2B1) increases hypertension risk in both the KARE and Health2 (meta-analysis, P-value=4.25 x 10(-9)) cohorts. 19960030 2010
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
0.020 GeneticVariation BEFREE Chi-squared test, logistic regression, and propensity score analysis showed that rs17249754 was associated with EHT, particularly in females. 26933664 2016
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 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
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT For systolic blood pressure, the most compelling association involved chromosome 12q21 and variants near the ATP2B1 gene (rs17249754, P = 1.3 x 10(-7)). 19396169 2009
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
0.700 GeneticVariation GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
Mean blood pressure
CUI: C0428886
Disease: Mean blood pressure
0.700 GeneticVariation GWASCAT Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. 25249183 2015
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci. 24001895 2013
Mean blood pressure
CUI: C0428886
Disease: Mean blood pressure
0.700 GeneticVariation GWASCAT Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci. 24001895 2013
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation BEFREE In conclusion, people with the major allele of ATP2B1 rs17249754 are susceptible to hypertension especially in low intake of Ca and high ratio of Na and K. 28934190 2017
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation BEFREE In contrast, in inactive group, two polymorphisms and genetic risk score were significantly associated with SBP (rs17249754: β = 1.26, 95% confidence interval (CI) 0.61-1.90, p < 0.001; rs1004467: β = 0.68, 95%CI 0.03-1.32, p = 0.039; genetic risk score: β = 1.54, 95%CI 0.74-2.33, p < 0.001); three polymorphisms and genetic risk score were significantly associated with hypertension (rs17249754: odds ratio (OR) = 1.27, 95%CI 1.08-1.49, p = 0.004; rs1378942: OR = 1.25, 95%CI 1.00-1.57, p = 0.050 (marginally significant); rs16998073: OR = 1.17, 95%CI 1.01-1.37, p = 0.044; genetic risk score: OR = 1.38, 95%CI 1.13-1.68, p = 0.001). 23102448 2012
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
Mean blood pressure
CUI: C0428886
Disease: Mean blood pressure
0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 21572416 2011
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 21572416 2011
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. 21572416 2011