{"most_severe_consequence":"missense_variant","synonyms":["NP_001273063.1:p.Glu340Lys","NM_021932.5:c.1018G>C","NM_001286134.1:c.1018G>C","NP_001273063.1:p.Glu340Gln","NP_068751.4:p.Glu340Lys","NM_001286134.1:c.1018G>A","NM_021932.5:c.1018G>A","NP_068751.4:p.Glu340Gln"],"MAF":null,"source":"Variants (including SNPs and indels) imported from dbSNP","ambiguity":"R","var_class":"SNP","ancestral_allele":"G","name":"rs116035550","evidence":["Frequency","1000Genomes","ESP","ExAC","TOPMed","gnomAD"],"minor_allele":null,"populations":[{"allele_count":30574,"frequency":1,"population":"gnomADe:sas","allele":"G"},{"allele":"G","population":"gnomADe:ALL","frequency":0.99999202647,"allele_count":250828},{"population":"gnomADe:ALL","allele":"A","frequency":7.97353e-06,"allele_count":2},{"frequency":1.76373e-05,"population":"gnomADe:nfe","allele":"A","allele_count":2},{"frequency":0.9999823627,"allele":"G","population":"gnomADe:nfe","allele_count":113394},{"frequency":1,"population":"gnomADe:afr","allele":"G","allele_count":16172},{"allele":"G","population":"gnomADe:asj","frequency":1,"allele_count":10062},{"allele_count":18368,"population":"gnomADe:eas","allele":"G","frequency":1},{"frequency":1,"population":"gnomADe:fin","allele":"G","allele_count":21604},{"allele_count":6118,"frequency":1,"population":"gnomADe:oth","allele":"G"},{"allele_count":34536,"frequency":1,"population":"gnomADe:amr","allele":"G"},{"allele_count":203,"submission_id":"ss217409436","frequency":0.995098,"population":"1000GENOMES:pilot_3_JPT_exon_capture_panel","allele":"G"},{"population":"1000GENOMES:pilot_3_JPT_exon_capture_panel","allele":"C","frequency":0.00490196,"allele_count":1,"submission_id":"ss217409436"},{"frequency":0.99978,"allele":"G","population":"NHLBI-ESP:ESP_Cohort_Populations","submission_id":"ss342312964","allele_count":4539},{"submission_id":"ss342312964","allele_count":1,"frequency":0.000220264,"allele":"A","population":"NHLBI-ESP:ESP_Cohort_Populations"},{"frequency":0.999984,"allele":"G","population":"EVA_EXAC:ExAc_Aggregated_Populations","submission_id":"ss1690155849","allele_count":121408},{"allele":"A","population":"EVA_EXAC:ExAc_Aggregated_Populations","frequency":1.64731e-05,"submission_id":"ss1690155849","allele_count":2},{"frequency":1,"population":"ESP6500:African_American","allele":"G","allele_count":4404},{"allele_count":1,"frequency":0.000116279,"allele":"A","population":"ESP6500:European_American"},{"frequency":0.999884,"population":"ESP6500:European_American","allele":"G","allele_count":8599}],"mappings":[{"allele_string":"G/A","coord_system":"chromosome","assembly_name":"GRCh37","end":212464,"strand":1,"start":212464,"seq_region_name":"11","location":"11:212464-212464"}]}