{"most_severe_consequence":"missense_variant","name":"rs699","ambiguity":"R","mappings":[{"assembly_name":"GRCh37","seq_region_name":"1","location":"1:230845794-230845794","ancestral_allele":"G","strand":1,"allele_string":"A/G","end":230845794,"start":230845794,"coord_system":"chromosome"}],"source":"Variants (including SNPs and indels) imported from dbSNP","clinical_significance":["benign","risk factor"],"synonyms":["NM_001382817.3:c.776T>C","NM_000029.4:c.803T>C","NM_000029.3:c.803T>C","NM_001382817.1:c.803T>C","NM_001382817.2:c.776T>C","NM_001384479.1:c.776T>C","NP_001369746.2:p.Met259Thr","NP_001371408.1:p.Met259Thr","PA166153539","rs3182295","rs4714","rs61617185","rs386606420","rs17856353","106150.0001","VAR_007096","RCV000019691","RCV002259306","RCV000019693","RCV000242838","RCV000405686","RCV000019692","VCV000018068","RCV000835695"],"MAF":0.294928,"phenotypes":[{"genes":"AGT","trait":"ClinVar: phenotype not specified","source":"ClinVar","variants":null,"risk_allele":"G"},{"variants":"rs699","source":"NHGRI-EBI GWAS catalog","risk_allele":"A","trait":"Coronary Artery Disease","beta_coefficient":"0.036 unit decrease","pvalue":"2.00e-8","genes":"AGT","study":"PMID:29212778","ontology_accessions":["EFO:0000378","EFO:0001645","HP:0001677"]},{"risk_allele":"A","variants":"rs699","source":"NHGRI-EBI GWAS catalog","beta_coefficient":"0.2195 unit decrease","trait":"Diastolic blood pressure","genes":null,"pvalue":"7.00e-25","study":"PMID:35762941","ontology_accessions":["EFO:0006336","EFO:0006945"]},{"ontology_accessions":["EFO:0000537","MONDO:0005044"],"genes":"AGT","source":"ClinVar","variants":null,"risk_allele":"G","trait":"Hypertensive disorder"},{"ontology_accessions":["EFO:0006340"],"study":"PMID:27618448","genes":"AGT","pvalue":"4.00e-12","beta_coefficient":"0.32885453 unit decrease","trait":"Mean arterial pressure","risk_allele":"A","source":"NHGRI-EBI GWAS catalog","variants":"rs699"},{"genes":"AGT","ontology_accessions":["HP:0000007","HP:0000091","HP:0000112","HP:0000113","HP:0000252","HP:0000316","HP:0000954","HP:0001382","HP:0001561","HP:0001562","HP:0001622","HP:0001636","HP:0002009","HP:0002089","HP:0002093","HP:0002615","HP:0004492","HP:0006703","HP:0008660","HP:0100519","MONDO:0017609","Orphanet:3033"],"trait":"RENAL TUBULAR DYSGENESIS","risk_allele":"G","source":"ClinVar","variants":null},{"risk_allele":"G","source":"ClinVar","variants":null,"trait":"Susceptibility to progression to renal failure in IgA nephropathy","genes":"AGT"},{"study":"PMID:35762941","ontology_accessions":["EFO:0006335","EFO:0006944"],"beta_coefficient":"0.3311 unit decrease","trait":"Systolic blood pressure","risk_allele":"A","variants":"rs699","source":"NHGRI-EBI GWAS catalog","genes":null,"pvalue":"3.00e-19"},{"source":"NHGRI-EBI GWAS catalog","variants":"rs699","risk_allele":"A","trait":"Systolic blood pressure","beta_coefficient":"0.2918 mmHg decrease","pvalue":"6.00e-26","genes":"AGT","study":"PMID:30578418","ontology_accessions":["EFO:0006335","EFO:0006944"]}],"var_class":"SNP","evidence":["Frequency","1000Genomes","Cited","ESP","Phenotype_or_Disease","ExAC","TOPMed","gnomAD"],"minor_allele":"A"}