{"source":"Variants (including SNPs and indels) imported from dbSNP","evidence":["Frequency","1000Genomes","ESP","ExAC","TOPMed","gnomAD"],"populations":[{"allele_count":26074,"frequency":0.9986,"population":"gnomADe:sas","allele":"C"},{"frequency":0.001379,"allele_count":36,"allele":"T","population":"gnomADe:sas"},{"allele":"C","population":"gnomADe:ALL","frequency":0.9964,"allele_count":198065},{"allele_count":719,"frequency":0.003617,"population":"gnomADe:ALL","allele":"T"},{"population":"gnomADe:nfe","allele":"T","allele_count":315,"frequency":0.003597},{"allele_count":87251,"frequency":0.9964,"population":"gnomADe:nfe","allele":"C"},{"population":"gnomADe:afr","allele":"C","allele_count":10874,"frequency":0.9993},{"allele_count":8,"frequency":0.0007352,"population":"gnomADe:afr","allele":"T"},{"frequency":0.9862,"allele_count":17643,"allele":"C","population":"gnomADe:fin"},{"population":"gnomADe:fin","allele":"T","allele_count":247,"frequency":0.01381},{"frequency":0.9948,"allele_count":5117,"allele":"C","population":"gnomADe:oth"},{"allele_count":27,"frequency":0.005249,"population":"gnomADe:oth","allele":"T"},{"allele_count":13938,"frequency":1,"population":"gnomADe:eas","allele":"C"},{"allele":"T","population":"gnomADe:asj","frequency":0.002299,"allele_count":21},{"population":"gnomADe:asj","allele":"C","allele_count":9115,"frequency":0.9977},{"population":"gnomADe:amr","allele":"T","allele_count":65,"frequency":0.002312},{"allele_count":28053,"frequency":0.9977,"population":"gnomADe:amr","allele":"C"},{"population":"gnomADg:afr","allele":"C","allele_count":41301,"frequency":0.9995},{"population":"gnomADg:afr","allele":"T","allele_count":21,"frequency":0.0005082},{"population":"gnomADg:fin","allele":"C","allele_count":10484,"frequency":0.9872},{"allele_count":136,"frequency":0.01281,"population":"gnomADg:fin","allele":"T"},{"frequency":1,"allele_count":316,"allele":"C","population":"gnomADg:mid"},{"allele_count":5,"frequency":0.001441,"population":"gnomADg:asj","allele":"T"},{"allele":"C","population":"gnomADg:asj","frequency":0.9986,"allele_count":3465},{"population":"gnomADg:ALL","allele":"T","allele_count":464,"frequency":0.003052},{"frequency":0.9969,"allele_count":151550,"allele":"C","population":"gnomADg:ALL"},{"frequency":0.0006206,"allele_count":3,"allele":"T","population":"gnomADg:sas"},{"frequency":0.9994,"allele_count":4831,"allele":"C","population":"gnomADg:sas"},{"allele":"C","population":"gnomADg:ami","frequency":1,"allele_count":912},{"population":"gnomADg:oth","allele":"T","allele_count":5,"frequency":0.00239},{"allele":"C","population":"gnomADg:oth","frequency":0.9976,"allele_count":2087},{"allele":"C","population":"gnomADg:amr","frequency":0.9982,"allele_count":15251},{"allele":"T","population":"gnomADg:amr","frequency":0.001767,"allele_count":27},{"frequency":0.003927,"allele_count":267,"allele":"T","population":"gnomADg:nfe"},{"population":"gnomADg:nfe","allele":"C","allele_count":67727,"frequency":0.9961},{"allele":"C","population":"gnomADg:eas","frequency":1,"allele_count":5176},{"population":"ALFA:SAMN10492698","allele":"C","allele_count":3613,"frequency":0.9992},{"allele":"T","population":"ALFA:SAMN10492698","frequency":0.0008296,"allele_count":3},{"allele_count":654,"frequency":1,"population":"ALFA:SAMN10492700","allele":"C"},{"allele_count":124,"frequency":1,"population":"ALFA:SAMN10492696","allele":"C"},{"allele_count":84,"frequency":1,"population":"ALFA:SAMN10492701","allele":"C"},{"allele_count":118,"frequency":1,"population":"ALFA:SAMN10492697","allele":"C"},{"population":"ALFA:SAMN10492699","allele":"T","allele_count":1,"frequency":0.001969},{"population":"ALFA:SAMN10492699","allele":"C","allele_count":507,"frequency":0.998},{"allele_count":27,"frequency":0.002694,"population":"ALFA:SAMN11605645","allele":"T"},{"allele_count":9995,"frequency":0.9973,"population":"ALFA:SAMN11605645","allele":"C"},{"population":"ALFA:SAMN10492705","allele":"T","allele_count":300,"frequency":0.002721},{"frequency":0.9973,"allele_count":109946,"allele":"C","population":"ALFA:SAMN10492705"},{"population":"ALFA:SAMN10492704","allele":"C","allele_count":202,"frequency":1},{"frequency":0.0008021,"allele_count":3,"allele":"T","population":"ALFA:SAMN10492703"},{"allele":"C","population":"ALFA:SAMN10492703","frequency":0.9992,"allele_count":3737},{"frequency":0.9972,"allele_count":94753,"allele":"C","population":"ALFA:SAMN10492695"},{"population":"ALFA:SAMN10492695","allele":"T","allele_count":269,"frequency":0.002831},{"population":"ALFA:SAMN10492702","allele":"C","allele_count":98,"frequency":1},{"allele_count":4221,"frequency":0.9993,"population":"ESP6500:AA","allele":"C"},{"allele_count":3,"frequency":0.0007102,"population":"ESP6500:AA","allele":"T"},{"frequency":0.003809,"allele_count":32,"allele":"T","population":"ESP6500:EA"},{"frequency":0.9962,"allele_count":8370,"allele":"C","population":"ESP6500:EA"},{"frequency":0.002643986,"allele":"T","population":"TOPMed"},{"allele":"C","population":"TOPMed","frequency":0.997356014},{"frequency":1,"allele_count":192,"allele":"C","population":"1000GENOMES:phase_3:ACB"},{"allele":"C","population":"1000GENOMES:phase_3:AFR","frequency":1,"allele_count":1322},{"allele_count":4995,"frequency":0.997404153354633,"population":"1000GENOMES:phase_3:ALL","allele":"C"},{"frequency":0.00259584664536741,"allele_count":13,"allele":"T","population":"1000GENOMES:phase_3:ALL"},{"population":"1000GENOMES:phase_3:AMR","allele":"C","allele_count":693,"frequency":0.998559077809798},{"allele":"T","population":"1000GENOMES:phase_3:AMR","frequency":0.00144092219020173,"allele_count":1},{"population":"1000GENOMES:phase_3:ASW","allele":"C","allele_count":122,"frequency":1},{"allele":"C","population":"1000GENOMES:phase_3:BEB","frequency":0.994186046511628,"allele_count":171},{"frequency":0.00581395348837209,"allele_count":1,"allele":"T","population":"1000GENOMES:phase_3:BEB"},{"population":"1000GENOMES:phase_3:CDX","allele":"C","allele_count":186,"frequency":1},{"allele":"C","population":"1000GENOMES:phase_3:CEU","frequency":1,"allele_count":198},{"allele":"C","population":"1000GENOMES:phase_3:CHB","frequency":1,"allele_count":206},{"allele_count":210,"frequency":1,"population":"1000GENOMES:phase_3:CHS","allele":"C"},{"allele_count":188,"frequency":1,"population":"1000GENOMES:phase_3:CLM","allele":"C"},{"allele_count":1008,"frequency":1,"population":"1000GENOMES:phase_3:EAS","allele":"C"},{"allele_count":198,"frequency":1,"population":"1000GENOMES:phase_3:ESN","allele":"C"},{"allele":"T","population":"1000GENOMES:phase_3:EUR","frequency":0.010934393638171,"allele_count":11},{"population":"1000GENOMES:phase_3:EUR","allele":"C","allele_count":995,"frequency":0.989065606361829},{"frequency":0.0202020202020202,"allele_count":4,"allele":"T","population":"1000GENOMES:phase_3:FIN"},{"allele":"C","population":"1000GENOMES:phase_3:FIN","frequency":0.97979797979798,"allele_count":194},{"allele":"T","population":"1000GENOMES:phase_3:GBR","frequency":0.010989010989011,"allele_count":2},{"frequency":0.989010989010989,"allele_count":180,"allele":"C","population":"1000GENOMES:phase_3:GBR"},{"allele_count":206,"frequency":1,"population":"1000GENOMES:phase_3:GIH","allele":"C"},{"allele":"C","population":"1000GENOMES:phase_3:GWD","frequency":1,"allele_count":226},{"frequency":0.995327102803738,"allele_count":213,"allele":"C","population":"1000GENOMES:phase_3:IBS"},{"frequency":0.00467289719626168,"allele_count":1,"allele":"T","population":"1000GENOMES:phase_3:IBS"},{"frequency":1,"allele_count":204,"allele":"C","population":"1000GENOMES:phase_3:ITU"},{"allele":"C","population":"1000GENOMES:phase_3:JPT","frequency":1,"allele_count":208},{"population":"1000GENOMES:phase_3:KHV","allele":"C","allele_count":198,"frequency":1},{"frequency":1,"allele_count":198,"allele":"C","population":"1000GENOMES:phase_3:LWK"},{"allele":"C","population":"1000GENOMES:phase_3:MSL","frequency":1,"allele_count":170},{"allele":"C","population":"1000GENOMES:phase_3:MXL","frequency":1,"allele_count":128},{"population":"1000GENOMES:phase_3:PEL","allele":"C","allele_count":170,"frequency":1},{"frequency":1,"allele_count":192,"allele":"C","population":"1000GENOMES:phase_3:PJL"},{"population":"1000GENOMES:phase_3:PUR","allele":"C","allele_count":207,"frequency":0.995192307692308},{"frequency":0.00480769230769231,"allele_count":1,"allele":"T","population":"1000GENOMES:phase_3:PUR"},{"population":"1000GENOMES:phase_3:SAS","allele":"C","allele_count":977,"frequency":0.998977505112474},{"allele_count":1,"frequency":0.00102249488752556,"population":"1000GENOMES:phase_3:SAS","allele":"T"},{"allele":"C","population":"1000GENOMES:phase_3:STU","frequency":1,"allele_count":204},{"allele":"C","population":"1000GENOMES:phase_3:TSI","frequency":0.981308411214953,"allele_count":210},{"frequency":0.0186915887850467,"allele_count":4,"allele":"T","population":"1000GENOMES:phase_3:TSI"},{"allele_count":216,"frequency":1,"population":"1000GENOMES:phase_3:YRI","allele":"C"}],"ambiguity":"Y","mappings":[{"assembly_name":"GRCh38","end":133256042,"location":"9:133256042-133256042","allele_string":"C/T","start":133256042,"strand":1,"coord_system":"chromosome","ancestral_allele":"C","seq_region_name":"9"},{"location":"CHR_HG2030_PATCH:133256189-133256189","allele_string":"C/T","assembly_name":"GRCh38","end":133256189,"seq_region_name":"CHR_HG2030_PATCH","ancestral_allele":null,"start":133256189,"strand":1,"coord_system":"chromosome"}],"synonyms":["NP_065202.2:p.Gly230Asp","NM_020469.2:c.689G>A","NM_020469.3:c.689G>A"],"minor_allele":"T","MAF":0.002596,"var_class":"SNP","name":"rs56116432","most_severe_consequence":"missense_variant"}