{"source":"Variants (including SNPs and indels) imported from dbSNP","ambiguity":"R","mappings":[{"allele_string":"A/G","seq_region_name":"1","coord_system":"chromosome","location":"1:230710048-230710048","ancestral_allele":"G","assembly_name":"GRCh38","start":230710048,"strand":1,"end":230710048}],"minor_allele":null,"MAF":null,"synonyms":["VAR_007096","106150.0001","rs17856353","rs386606420","rs4714","rs3182295","rs61617185","NP_001369746.2:p.Met259Thr","NM_001384479.1:c.776T>C","NP_001371408.1:p.Met259Thr","NM_001382817.1:c.803T>C","NM_000029.3:c.803T>C","NM_000029.4:c.803T>C","NM_001382817.2:c.776T>C","NM_001382817.3:c.776T>C","RCV000835695","RCV000019693","RCV000242838","RCV000405686","RCV002259306","RCV000019692","VCV000018068","RCV000019691","PA166153539"],"genotyping_chips":["Illumina_Human610_Quad","Illumina_HumanOmni2.5","HumanCoreExome-12","HumanOmniExpress","Illumina_ImmunoChip","Illumina_1M-duo","Illumina_HumanOmni1-Quad","Illumina_Human660W-quad","Illumina_HumanHap650Y","Illumina_HumanHap550","Illumina_ExomeChip"],"evidence":["Frequency","1000Genomes","Cited","ESP","Phenotype_or_Disease","ExAC","TOPMed","gnomAD"],"var_class":"SNP","clinical_significance":["benign"],"most_severe_consequence":"missense_variant","name":"rs699"}