{"synonyms":["NM_021932.5:c.1018G>A","NP_068751.4:p.Glu340Gln","NP_068751.4:p.Glu340Lys","NM_001286134.1:c.1018G>A","NM_001286134.1:c.1018G>C","NP_001273063.1:p.Glu340Gln","NP_001273063.1:p.Glu340Lys","NM_021932.5:c.1018G>C"],"most_severe_consequence":"missense_variant","MAF":null,"source":"Variants (including SNPs and indels) imported from dbSNP","ambiguity":"R","ancestral_allele":"G","name":"rs116035550","var_class":"SNP","evidence":["Frequency","1000Genomes","ESP","ExAC","TOPMed","gnomAD"],"minor_allele":null,"mappings":[{"allele_string":"G/A","strand":1,"start":212464,"location":"11:212464-212464","seq_region_name":"11","assembly_name":"GRCh37","coord_system":"chromosome","end":212464}]}