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