rs17367504, MTHFR

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Birth Weight
CUI: C0005612
Disease: Birth Weight
0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes. 29615537 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
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 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
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 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 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
Mean blood pressure
CUI: C0428886
Disease: Mean blood pressure
0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.700 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
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
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. 21378095 2011
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
0.700 GeneticVariation GWASCAT Genome-wide association study identifies eight loci associated with blood pressure. 19430483 2009
Systolic blood pressure measurement
CUI: C1306620
Disease: Systolic blood pressure measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies eight loci associated with blood pressure. 19430483 2009
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.030 GeneticVariation BEFREE The G allele of rs17367504 has previously been shown to protect against nongestational hypertension. 27755385 2017
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.030 GeneticVariation BEFREE The results suggested that both CYP17A1 rs11191548 and FGF5 rs16998073 polymorphisms were significantly associated with hypertension risk in East Asians (CYP17A1 rs11191548 (random effect model): OR=1.16, 95% CI 1.07-1.25, p=3.59×10(-4), I(2)=78.2%, p (heterogeneity)=1.14×10(-4); FGF5 rs16998073 (random effect model): OR=1.30, 95% CI 1.23-1.37, p=6.29×10(-21), I(2)=65.0%, p (heterogeneity)=0.009); whereas no significant association was observed for CSK rs1378942 (fix effect model: OR=1.09, 95% CI 0.98-1.22, p=0.128, I(2)=0.0%, p (heterogeneity)=0.820), or MTHFR rs17367504 (fix effect model: OR=1.06, 95% CI 0.98-1.14, p=0.126, I(2)=0.0%, p (heterogeneity)=0.822). 22959498 2013
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.030 GeneticVariation BEFREE The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-rs11191548, CYP17A1-rs1004467 and MTHFR-rs17367504, was significantly associated with increased SBP (1.16 mmHg/allele, P = 9.01E-5), DBP (0.51 mmHg/allele, P = 4.40E-4) and hypertension risk (OR = 1.22/allele, P = 2.74E-7). 20852445 2011
Hypotension, Orthostatic
CUI: C0020651
Disease: Hypotension, Orthostatic
0.010 GeneticVariation BEFREE Among subjects not taking BP-lowering drugs, three SNPs within the NPPA/NPPB locus were nominally associated with increased risk of OH (rs17367504: 1.13, 1.02-1.24; P = 0.02, rs198358: 1.10, 1.01-1.20; P = 0.04, and rs5068: 1.22, 1.04-1.43; P = 0.01). 22504314 2012