rs17249754, ATP2B1

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
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
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
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
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation BEFREE That is, carriers with ATP2B1 rs17249754 homozygote mutant allele may be at higher risk of hypertension, when they consume excessive sodium intake. 27149052 2016
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation BEFREE The MDR analysis demonstrated that the interaction of rs2070759, rs17249754, TC, TG, and BMI increased the susceptibility to hypertension. 26933664 2016
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
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 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
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
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 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
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
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation GWASCAT Structural equation modeling for hypertension and type 2 diabetes based on multiple SNPs and multiple phenotypes. 31513605 2019
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.800 GeneticVariation BEFREE Recently STK39 rs3754777, ATP2B1 rs2681472 and rs17249754 have been associated with BP variation and hypertension. 31242870 2019
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
0.020 GeneticVariation BEFREE Our results confirmed the significant association of ATP2B1 rs17249754 with the risk of developing EH in Burkinabe and showed an increase of cardiovascular risk markers levels in subjects with EH. 31242870 2019