{"ambiguity":"R","source":"Variants (including SNPs and indels) imported from dbSNP","evidence":["Frequency","1000Genomes","Cited","ESP","Phenotype_or_Disease","ExAC","TOPMed","gnomAD"],"synonyms":["PA166153539","106150.0001","VAR_007096","NM_000029.3:c.803T>C","NP_000020.1:p.Met268Thr","NM_000029.4:c.803T>C","RCV000242838","RCV000835695","VCV000018068","RCV000019693","RCV000405686","RCV000019691","RCV000019692","rs4714","rs17856353","rs386606420","rs61617185","rs3182295"],"genotyping_chips":["Illumina_Human610_Quad","Illumina_HumanOmni2.5","Illumina_HumanHap650Y","Illumina_ImmunoChip","Illumina_HumanOmni1-Quad","HumanCoreExome-12","Illumina_1M-duo","Illumina_ExomeChip","Illumina_Human660W-quad","HumanOmniExpress","Illumina_HumanHap550"],"clinical_significance":["benign","risk factor"],"mappings":[{"strand":1,"start":230710048,"coord_system":"chromosome","ancestral_allele":"G","seq_region_name":"1","assembly_name":"GRCh38","end":230710048,"allele_string":"A/G","location":"1:230710048-230710048"}],"name":"rs699","var_class":"SNP","most_severe_consequence":"missense_variant","minor_allele":"A","MAF":0.2949}