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