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