[{"ambiguity":"R","var_class":"SNP","clinical_significance":["benign","risk factor"],"source":"Variants (including SNPs and indels) imported from dbSNP","mappings":[{"coord_system":"chromosome","start":230845794,"strand":1,"allele_string":"A/G","ancestral_allele":"G","assembly_name":"GRCh37","location":"1:230845794-230845794","end":230845794,"seq_region_name":"1"}],"synonyms":["PA166153539","VAR_007096","RCV000835695","RCV000019692","RCV000019693","RCV000405686","VCV000018068","RCV000242838","RCV000019691","RCV002259306","rs3182295","rs4714","rs17856353","rs386606420","rs61617185","NM_001382817.2:c.776T>C","NM_001382817.3:c.776T>C","NP_001371408.1:p.Met259Thr","NM_001384479.1:c.776T>C","NM_000029.4:c.803T>C","NP_001369746.2:p.Met259Thr","NM_000029.3:c.803T>C","NM_001382817.1:c.803T>C","106150.0001"],"minor_allele":"A","name":"rs699","most_severe_consequence":"missense_variant","evidence":["Frequency","1000Genomes","Cited","ESP","Phenotype_or_Disease","ExAC","TOPMed","gnomAD"],"MAF":0.294928},{"source":"Variants (including SNPs and indels) imported from dbSNP","mappings":[{"strand":1,"allele_string":"A/C","ancestral_allele":"A","coord_system":"chromosome","start":148459988,"location":"3:148459988-148459988","end":148459988,"seq_region_name":"3","assembly_name":"GRCh37"}],"synonyms":["PA166156276","VCV000018065","RCV001723581","RCV000374969","RCV000019688","RCV002482889","rs386597902","rs3192044","rs17231380","rs3732563","rs59796105","NM_017488.4:c.1797C>T","NM_017488.3:c.1797C>T","106165.0001"],"minor_allele":"C","var_class":"SNP","ambiguity":"M","clinical_significance":["benign","likely benign","risk factor"],"most_severe_consequence":"3_prime_UTR_variant","evidence":["Frequency","1000Genomes","Cited","ESP","Phenotype_or_Disease","ExAC","TOPMed","gnomAD"],"MAF":0.117812,"name":"rs5186"},{"ambiguity":"H","var_class":"SNP","clinical_significance":["benign"],"minor_allele":"T","source":"Variants (including SNPs and indels) imported from dbSNP","synonyms":["NM_000196.4:c.468C>G","NM_000196.3:c.468C>A","NM_000196.4:c.468C>T","NM_000196.3:c.468C>G","NM_000196.3:c.468C>T","NM_000196.4:c.468C>A","PA166155143","RCV001610167","VCV001231511"],"mappings":[{"coord_system":"chromosome","start":61554194,"allele_string":"T/A/C","strand":1,"ancestral_allele":"A","assembly_name":"GRCh37","seq_region_name":"17","location":"17:61554194-61554194","end":61554194}],"name":"rs4291","MAF":0.348642,"evidence":["Frequency","1000Genomes","Cited","Phenotype_or_Disease","TOPMed","gnomAD"],"most_severe_consequence":"regulatory_region_variant"},{"name":"rs4292","evidence":["Frequency","1000Genomes","Cited","Phenotype_or_Disease","TOPMed","gnomAD"],"MAF":0.25619,"most_severe_consequence":"regulatory_region_variant","ambiguity":"N","var_class":"SNP","clinical_significance":["benign"],"minor_allele":"C","source":"Variants (including SNPs and indels) imported from dbSNP","synonyms":["VCV001285756","RCV001708050","PA166155144","NM_000196.3:c.588G>A","NM_000196.4:c.588G>T","NM_000196.4:c.588G>A","NM_000196.3:c.588G>T"],"mappings":[{"strand":1,"allele_string":"C/A/G/T","ancestral_allele":"T","coord_system":"chromosome","start":61554341,"seq_region_name":"17","location":"17:61554341-61554341","end":61554341,"assembly_name":"GRCh37"}]},{"source":"Variants (including SNPs and indels) imported from dbSNP","synonyms":["VCV001262835","RCV001670068","rs61342123","rs56419987","rs741861","rs17236653","rs58733608","NM_000196.3:c.*508T>C","NM_000196.4:c.*508T>A","NM_000196.3:c.*508T>A","NM_000196.4:c.*508T>C"],"mappings":[{"assembly_name":"GRCh37","seq_region_name":"17","end":61555666,"location":"17:61555666-61555666","start":61555666,"coord_system":"chromosome","ancestral_allele":"G","allele_string":"G/A/C/T","strand":1}],"minor_allele":"A","var_class":"SNP","ambiguity":"N","clinical_significance":["benign"],"most_severe_consequence":"non_coding_transcript_exon_variant","evidence":["Frequency","1000Genomes","Cited","Phenotype_or_Disease","TOPMed","gnomAD"],"MAF":0.473842,"name":"rs4293"},{"name":"rs1800764","most_severe_consequence":"intergenic_variant","evidence":["Frequency","1000Genomes","Cited","TOPMed","gnomAD"],"MAF":0.466254,"var_class":"SNP","ambiguity":"B","source":"Variants (including SNPs and indels) imported from dbSNP","mappings":[{"assembly_name":"GRCh37","seq_region_name":"17","end":61550529,"location":"17:61550529-61550529","start":61550529,"coord_system":"chromosome","ancestral_allele":"C","strand":1,"allele_string":"C/G/T"}],"synonyms":["rs59546396","PA166160291"],"minor_allele":"T"},{"var_class":"SNP","ambiguity":"V","minor_allele":"G","mappings":[{"seq_region_name":"X","end":40439434,"location":"X:40439434-40439434","assembly_name":"GRCh37","ancestral_allele":"G","allele_string":"G/A/C","strand":1,"start":40439434,"coord_system":"chromosome"}],"synonyms":["rs3829831"],"source":"Variants (including SNPs and indels) imported from dbSNP","name":"rs2968915","MAF":0.126358,"evidence":["Frequency","1000Genomes","Cited","TOPMed","gnomAD"],"most_severe_consequence":"regulatory_region_variant"}]