{"var_class":"SNP","source":"Variants (including SNPs and indels) imported from dbSNP","MAF":0.00274725,"most_severe_consequence":"missense_variant","minor_allele":"T","name":"rs56116432","synonyms":[],"evidence":["Frequency","1000Genomes","Cited","ESP","ExAC","TOPMed","gnomAD"],"ambiguity":"H","mappings":[{"strand":1,"seq_region_name":"9","assembly_name":"GRCh38","ancestral_allele":"C","coord_system":"chromosome","start":133256042,"location":"9:133256042-133256042","allele_string":"C/A/T","end":133256042},{"start":82135,"location":"HG2030_PATCH:82135-82135","allele_string":"C/A/T","end":82135,"strand":1,"seq_region_name":"HG2030_PATCH","coord_system":"scaffold","ancestral_allele":null,"assembly_name":"GRCh38"}],"populations":[{"population":"gnomADe:asj","frequency":1,"allele":"C","allele_count":25520},{"allele_count":82616,"allele":"C","frequency":1,"population":"gnomADe:sas"},{"population":"gnomADe:nfe","allele":"C","frequency":1,"allele_count":1098304},{"population":"gnomADe:afr","allele_count":32614,"allele":"C","frequency":1},{"allele_count":39294,"allele":"C","frequency":1,"population":"gnomADe:amr"},{"frequency":1,"allele":"C","allele_count":1432262,"population":"gnomADe:ALL"},{"population":"gnomADe:remaining","allele":"C","allele_count":59302,"frequency":1},{"population":"gnomADe:fin","allele":"C","frequency":1,"allele_count":51158},{"population":"gnomADe:mid","allele":"C","allele_count":5736,"frequency":1},{"allele":"C","allele_count":37718,"frequency":1,"population":"gnomADe:eas"},{"allele":"C","allele_count":67720,"frequency":0.9961,"population":"gnomADg:nfe"},{"population":"gnomADg:nfe","allele_count":266,"allele":"T","frequency":0.003913},{"population":"gnomADg:fin","frequency":0.01281,"allele":"T","allele_count":136},{"allele":"C","allele_count":10484,"frequency":0.9872,"population":"gnomADg:fin"},{"allele_count":21,"allele":"T","frequency":0.0005067,"population":"gnomADg:afr"},{"population":"gnomADg:afr","allele":"C","frequency":0.9995,"allele_count":41423},{"allele":"C","allele_count":912,"frequency":1,"population":"gnomADg:ami"},{"allele":"T","allele_count":27,"frequency":0.001765,"population":"gnomADg:amr"},{"population":"gnomADg:amr","frequency":0.9982,"allele":"C","allele_count":15271},{"allele_count":5164,"allele":"C","frequency":1,"population":"gnomADg:eas"},{"allele":"T","allele_count":5,"frequency":0.001441,"population":"gnomADg:asj"},{"allele_count":3465,"allele":"C","frequency":0.9986,"population":"gnomADg:asj"},{"allele":"T","allele_count":5,"frequency":0.002365,"population":"gnomADg:remaining"},{"allele_count":2109,"allele":"C","frequency":0.9976,"population":"gnomADg:remaining"},{"allele":"T","frequency":0.0006211,"allele_count":3,"population":"gnomADg:sas"},{"population":"gnomADg:sas","allele_count":4827,"allele":"C","frequency":0.9994},{"population":"gnomADg:mid","allele":"C","allele_count":294,"frequency":1},{"allele":"C","allele_count":151669,"frequency":0.997,"population":"gnomADg:ALL"},{"population":"gnomADg:ALL","frequency":0.003043,"allele":"T","allele_count":463},{"population":"ALFA:SAMN10492702","allele":"C","allele_count":98,"frequency":1},{"population":"ALFA:SAMN10492695","allele_count":269,"allele":"T","frequency":0.002831},{"population":"ALFA:SAMN10492695","frequency":0.9972,"allele":"C","allele_count":94753},{"population":"ALFA:SAMN10492697","frequency":1,"allele":"C","allele_count":118},{"population":"ALFA:SAMN10492705","allele_count":300,"allele":"T","frequency":0.002721},{"population":"ALFA:SAMN10492705","allele":"C","frequency":0.9973,"allele_count":109946},{"allele_count":124,"allele":"C","frequency":1,"population":"ALFA:SAMN10492696"},{"population":"ALFA:SAMN10492699","allele_count":1,"allele":"T","frequency":0.001969},{"population":"ALFA:SAMN10492699","frequency":0.998,"allele":"C","allele_count":507},{"allele":"C","allele_count":9995,"frequency":0.9973,"population":"ALFA:SAMN11605645"},{"population":"ALFA:SAMN11605645","allele":"T","frequency":0.002694,"allele_count":27},{"population":"ALFA:SAMN10492701","allele":"C","allele_count":84,"frequency":1},{"population":"ALFA:SAMN10492700","allele":"C","allele_count":654,"frequency":1},{"allele":"C","allele_count":202,"frequency":1,"population":"ALFA:SAMN10492704"},{"allele_count":3737,"allele":"C","frequency":0.9992,"population":"ALFA:SAMN10492703"},{"population":"ALFA:SAMN10492703","frequency":0.0008021,"allele":"T","allele_count":3},{"population":"ALFA:SAMN10492698","allele":"C","allele_count":3613,"frequency":0.9992},{"population":"ALFA:SAMN10492698","allele_count":3,"allele":"T","frequency":0.0008296},{"population":"ESP6500:AA","allele":"T","frequency":0.0007102,"allele_count":3},{"allele":"C","allele_count":4221,"frequency":0.9993,"population":"ESP6500:AA"},{"population":"ESP6500:EA","allele":"C","allele_count":8370,"frequency":0.9962},{"population":"ESP6500:EA","frequency":0.003809,"allele":"T","allele_count":32},{"population":"TOPMed","allele":"C","frequency":0.997356014},{"population":"TOPMed","frequency":0.002643986,"allele":"T"},{"allele":"C","allele_count":192,"frequency":1,"population":"1000GENOMES:phase_3:ACB"},{"population":"1000GENOMES:phase_3:AFR","allele_count":1322,"allele":"C","frequency":1},{"allele":"T","allele_count":13,"frequency":0.00259584664536741,"population":"1000GENOMES:phase_3:ALL"},{"allele_count":4995,"allele":"C","frequency":0.997404153354633,"population":"1000GENOMES:phase_3:ALL"},{"population":"1000GENOMES:phase_3:AMR","allele":"C","frequency":0.998559077809798,"allele_count":693},{"population":"1000GENOMES:phase_3:AMR","allele_count":1,"allele":"T","frequency":0.00144092219020173},{"allele":"C","allele_count":122,"frequency":1,"population":"1000GENOMES:phase_3:ASW"},{"population":"1000GENOMES:phase_3:BEB","allele":"C","allele_count":171,"frequency":0.994186046511628},{"frequency":0.00581395348837209,"allele":"T","allele_count":1,"population":"1000GENOMES:phase_3:BEB"},{"allele":"C","allele_count":186,"frequency":1,"population":"1000GENOMES:phase_3:CDX"},{"allele_count":198,"allele":"C","frequency":1,"population":"1000GENOMES:phase_3:CEU"},{"population":"1000GENOMES:phase_3:CHB","frequency":1,"allele":"C","allele_count":206},{"population":"1000GENOMES:phase_3:CHS","frequency":1,"allele":"C","allele_count":210},{"population":"1000GENOMES:phase_3:CLM","allele_count":188,"allele":"C","frequency":1},{"allele":"C","frequency":1,"allele_count":1008,"population":"1000GENOMES:phase_3:EAS"},{"population":"1000GENOMES:phase_3:ESN","allele_count":198,"allele":"C","frequency":1},{"allele_count":11,"allele":"T","frequency":0.010934393638171,"population":"1000GENOMES:phase_3:EUR"},{"frequency":0.989065606361829,"allele":"C","allele_count":995,"population":"1000GENOMES:phase_3:EUR"},{"population":"1000GENOMES:phase_3:FIN","allele":"T","allele_count":4,"frequency":0.0202020202020202},{"population":"1000GENOMES:phase_3:FIN","allele":"C","frequency":0.97979797979798,"allele_count":194},{"allele":"T","allele_count":2,"frequency":0.010989010989011,"population":"1000GENOMES:phase_3:GBR"},{"population":"1000GENOMES:phase_3:GBR","allele":"C","allele_count":180,"frequency":0.989010989010989},{"allele":"C","allele_count":206,"frequency":1,"population":"1000GENOMES:phase_3:GIH"},{"allele_count":226,"allele":"C","frequency":1,"population":"1000GENOMES:phase_3:GWD"},{"frequency":0.00467289719626168,"allele":"T","allele_count":1,"population":"1000GENOMES:phase_3:IBS"},{"allele":"C","allele_count":213,"frequency":0.995327102803738,"population":"1000GENOMES:phase_3:IBS"},{"population":"1000GENOMES:phase_3:ITU","allele_count":204,"allele":"C","frequency":1},{"allele":"C","frequency":1,"allele_count":208,"population":"1000GENOMES:phase_3:JPT"},{"population":"1000GENOMES:phase_3:KHV","allele":"C","allele_count":198,"frequency":1},{"population":"1000GENOMES:phase_3:LWK","allele":"C","allele_count":198,"frequency":1},{"frequency":1,"allele":"C","allele_count":170,"population":"1000GENOMES:phase_3:MSL"},{"allele_count":128,"allele":"C","frequency":1,"population":"1000GENOMES:phase_3:MXL"},{"population":"1000GENOMES:phase_3:PEL","allele":"C","allele_count":170,"frequency":1},{"population":"1000GENOMES:phase_3:PJL","allele_count":192,"allele":"C","frequency":1},{"population":"1000GENOMES:phase_3:PUR","allele":"C","allele_count":207,"frequency":0.995192307692308},{"population":"1000GENOMES:phase_3:PUR","allele_count":1,"allele":"T","frequency":0.00480769230769231},{"population":"1000GENOMES:phase_3:SAS","allele":"T","frequency":0.00102249488752556,"allele_count":1},{"allele_count":977,"allele":"C","frequency":0.998977505112474,"population":"1000GENOMES:phase_3:SAS"},{"allele":"C","allele_count":204,"frequency":1,"population":"1000GENOMES:phase_3:STU"},{"population":"1000GENOMES:phase_3:TSI","allele":"C","allele_count":210,"frequency":0.981308411214953},{"frequency":0.0186915887850467,"allele":"T","allele_count":4,"population":"1000GENOMES:phase_3:TSI"},{"allele":"C","allele_count":216,"frequency":1,"population":"1000GENOMES:phase_3:YRI"}]}