{"most_severe_consequence":"missense_variant","clinical_significance":["benign","risk factor"],"minor_allele":"A","source":"Variants (including SNPs and indels) imported from dbSNP","synonyms":["106150.0001","PA166153539","NM_001382817.2:c.776T>C","NM_000029.3:c.803T>C","NM_001384479.1:c.776T>C","NM_000029.4:c.803T>C","NP_001371408.1:p.Met259Thr","NP_001369746.2:p.Met259Thr","NM_001382817.1:c.803T>C","NM_001382817.3:c.776T>C","RCV002259306","RCV000835695","RCV000405686","RCV000019693","VCV000018068","RCV000242838","RCV000019692","RCV000019691","VAR_007096","rs386606420","rs3182295","rs4714","rs17856353","rs61617185"],"name":"rs699","var_class":"SNP","genotyping_chips":["Illumina_HumanOmni2.5","Illumina_ExomeChip","Illumina_Human660W-quad","Illumina_HumanOmni1-Quad","HumanOmniExpress","Illumina_HumanHap550","Illumina_ImmunoChip","HumanCoreExome-12","Illumina_Human610_Quad","Illumina_HumanHap650Y","Illumina_1M-duo"],"evidence":["Frequency","1000Genomes","Cited","ESP","Phenotype_or_Disease","ExAC","TOPMed","gnomAD"],"MAF":0.294928,"mappings":[{"ancestral_allele":"G","end":230845794,"location":"1:230845794-230845794","start":230845794,"coord_system":"chromosome","allele_string":"A/G","assembly_name":"GRCh37","strand":1,"seq_region_name":"1"}],"ambiguity":"R"}