{"name":"rs699","synonyms":["VAR_007096","rs4714","rs17856353","rs386606420","rs3182295","rs61617185","106150.0001","VCV000018068","RCV000405686","RCV000019693","RCV000019691","RCV000019692","RCV000835695","RCV000242838","NM_000029.4:c.803T>C","NP_000020.1:p.Met268Thr","NM_000029.3:c.803T>C","PA166153539"],"clinical_significance":["benign","risk factor"],"MAF":0.2949,"most_severe_consequence":"missense_variant","var_class":"SNP","phenotypes":[{"variants":null,"source":"ClinVar","risk_allele":"G","trait":"ClinVar: phenotype not specified","genes":"AGT"},{"variants":"rs699","source":"NHGRI-EBI GWAS catalog","beta_coefficient":"0.036 unit decrease","study":"PMID:29212778","genes":"AGT","ontology_accessions":["EFO:0000378","EFO:0001645","HP:0001677"],"risk_allele":"A","trait":"Coronary Artery Disease","pvalue":"2.00e-8"},{"variants":null,"risk_allele":"G","ontology_accessions":["EFO:0000537"],"source":"ClinVar","genes":"AGT","trait":"HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO"},{"variants":"rs699","source":"NHGRI-EBI GWAS catalog","beta_coefficient":"0.32885453 unit decrease","study":"PMID:27618448","genes":"AGT","ontology_accessions":["EFO:0006340"],"risk_allele":"A","trait":"Mean arterial pressure","pvalue":"4.00e-12"},{"risk_allele":"G","source":"ClinVar","ontology_accessions":["EFO:0000668","HP:0100602"],"variants":null,"genes":"AGT","trait":"Preeclampsia, susceptibility to"},{"ontology_accessions":["HP:0000110","Orphanet:93108"],"source":"ClinVar","risk_allele":"G","variants":null,"trait":"Renal dysplasia","genes":"AGT"},{"trait":"Susceptibility to progression to renal failure in IgA nephropathy","genes":"AGT","variants":null,"risk_allele":"G","source":"ClinVar"},{"genes":"AGT","variants":"rs699","study":"PMID:30578418","beta_coefficient":"0.2918 mmHg decrease","source":"NHGRI-EBI GWAS catalog","pvalue":"6.00e-26","trait":"Systolic blood pressure","risk_allele":"A","ontology_accessions":["EFO:0006335","EFO:0006944"]}],"ambiguity":"R","mappings":[{"ancestral_allele":"G","end":230710048,"seq_region_name":"1","assembly_name":"GRCh38","coord_system":"chromosome","allele_string":"A/G","start":230710048,"location":"1:230710048-230710048","strand":1}],"evidence":["Frequency","1000Genomes","Cited","ESP","Phenotype_or_Disease","ExAC","TOPMed","gnomAD"],"minor_allele":"A","source":"Variants (including SNPs and indels) imported from dbSNP"}