{"_id":"chr11:g.17387156G>A","_version":2,"chrom":"11","clingen":{"caid":"CA5902216"},"clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":752573,"alt":"A","chrom":"11","cytogenic":"11p15.1","gene":{"id":"3767","symbol":"KCNJ11"},"hg19":{"end":17408703,"start":17408703},"hg38":{"end":17387156,"start":17387156},"hgvs":{"coding":["NM_000525.4:c.936C>T","NM_001166290.2:c.675C>T","NM_001377296.1:c.675C>T","NM_001377297.1:c.675C>T"],"genomic":["NC_000011.10:g.17387156G>A","NC_000011.9:g.17408703G>A","NC_000011.9:g.17408703G>A","NG_012446.1:g.6504C>T"],"protein":["NP_000516.3:p.Gly312=","NP_000516.3:p.Gly312=","NP_001159762.1:p.Gly225=","NP_001364225.1:p.Gly225=","NP_001364226.1:p.Gly225="]},"rcv":[{"accession":"RCV000918620","clinical_significance":"Likely benign","conditions":{"identifiers":{"medgen":"C3661900"},"name":"not provided","synonyms":["none provided","RECLASSIFIED - ADRA2C POLYMORPHISM","RECLASSIFIED - ADRB1 POLYMORPHISM"]},"last_evaluated":"2025-01-27","number_submitters":1,"origin":"germline","preferred_name":"NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)","review_status":"criteria provided, single submitter"},{"accession":"RCV001553586","clinical_significance":"Likely benign","conditions":{"identifiers":{"medgen":"CN169374"},"name":"not specified","synonyms":["AllHighlyPenetrant"]},"last_evaluated":"2021-07-08","number_submitters":1,"origin":"germline","preferred_name":"NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)","review_status":"criteria provided, single submitter"},{"accession":"RCV002226746","clinical_significance":"Uncertain significance","conditions":{"identifiers":{"human_phenotype_ontology":"HP:0004904","medgen":"C0342276","mondo":"MONDO:0018911","omim":"606391","orphanet":"552"},"name":"Maturity onset diabetes mellitus in young (MODY)","synonyms":["Mason type diabetes"]},"number_submitters":1,"origin":"somatic","preferred_name":"NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)","review_status":"criteria provided, single submitter"}],"ref":"G","rsid":"rs139445409","type":"single nucleotide variant","variant_id":742370},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"dbgap_popfreq":1.0,"exac":1.0,"gnomad":1.0,"gnomad_exomes":1.0,"goesp":1.0,"topmed":1.0}},{"allele":"A","freq":{"dbgap_popfreq":0.0,"exac":0.0,"gnomad":0.0,"gnomad_exomes":0.0,"goesp":0.0,"topmed":0.0}}],"alt":"A","chrom":"11","dbsnp_build":156,"gene":{"geneid":3767,"is_pseudo":false,"name":"potassium inwardly rectifying channel subfamily J member 11","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"GGC","inserted_sequence":"GGC","position":1501,"seq_id":"NM_000525.4"},"hgvs":"NM_000525.4:c.936=","protein":{"variant":{"spdi":{"deleted_sequence":"G","inserted_sequence":"G","position":311,"seq_id":"NP_000516.3"}}},"protein_product":{"refseq":"NP_000516.3"},"refseq":"NM_000525.4","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GGC","inserted_sequence":"GGC","position":861,"seq_id":"NM_001166290.2"},"hgvs":"NM_001166290.2:c.675=","protein":{"variant":{"spdi":{"deleted_sequence":"G","inserted_sequence":"G","position":224,"seq_id":"NP_001159762.1"}}},"protein_product":{"refseq":"NP_001159762.1"},"refseq":"NM_001166290.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GGC","inserted_sequence":"GGC","position":1064,"seq_id":"NM_001377296.1"},"hgvs":"NM_001377296.1:c.675=","protein":{"variant":{"spdi":{"deleted_sequence":"G","inserted_sequence":"G","position":224,"seq_id":"NP_001364225.1"}}},"protein_product":{"refseq":"NP_001364225.1"},"refseq":"NM_001377296.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GGC","inserted_sequence":"GGC","position":1005,"seq_id":"NM_001377297.1"},"hgvs":"NM_001377297.1:c.675=","protein":{"variant":{"spdi":{"deleted_sequence":"G","inserted_sequence":"G","position":224,"seq_id":"NP_001364226.1"}}},"protein_product":{"refseq":"NP_001364226.1"},"refseq":"NM_001377297.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]}],"strand":"-","symbol":"KCNJ11"},"hg38":{"end":17387156,"start":17387156},"ref":"G","rsid":"rs139445409","vartype":"snv"},"evs":{"_license":"http://bit.ly/2QAcvkh","allele_count":{"african_american":{"A":1,"G":4399},"all":{"A":1,"G":12985},"european_american":{"A":0,"G":8586}},"alt":"A","avg_sample_read":123,"chimp_allele":"G","chrom":11,"coding_dna_size":[912,1173],"conservation":{"gerp":0.5,"phast_cons":1.0},"dbsnp_version":134,"estimated_age_kyrs":{"aa":"2.1+/-5.4"},"filter_status":"PASS","function_gvs":"coding-synonymous","gene":[{"accession":"NM_001166290.1","symbol":"KCNJ11"},{"accession":"NM_000525.3","symbol":"KCNJ11"}],"genotype_count":{"african_american":{"AA":0,"AG":1,"GG":2199},"all_genotype":{"AA":0,"AG":1,"GG":6492},"european_american":{"AA":0,"AG":0,"GG":4293}},"hg19":{"end":17408703,"start":17408703},"hg38":{"end":17387156,"start":17387156},"hgvs":[{"coding":"c.675C>T","protein":"p.(G225=)"},{"coding":"c.936C>T","protein":"p.(G312=)"}],"ma_fin_percent":{"african_american":0.0227,"all":0.0077,"european_american":0.0},"on_illumina_human_exome_chip":"no","polyphen2":{"class":"u","score":"n"},"ref":"G","ref_base_ncbi":"G","rsid":"rs139445409"},"gnomad_exome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":4,"ac_afr":3,"ac_afr_female":1,"ac_afr_male":2,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_jpn":0,"ac_eas_kor":0,"ac_eas_male":0,"ac_eas_oea":0,"ac_female":1,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":3,"ac_nfe":1,"ac_nfe_bgr":0,"ac_nfe_est":0,"ac_nfe_female":0,"ac_nfe_male":1,"ac_nfe_nwe":0,"ac_nfe_onf":1,"ac_nfe_seu":0,"ac_nfe_swe":0,"ac_oth":0,"ac_oth_female":0,"ac_oth_male":0,"ac_sas":0,"ac_sas_female":0,"ac_sas_male":0},"af":{"af":0.0000159058,"af_afr":0.000184547,"af_afr_female":0.0000993049,"af_afr_male":0.000323311,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_jpn":0.0,"af_eas_kor":0.0,"af_eas_male":0.0,"af_eas_oea":0.0,"af_female":8.65366e-6,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.0000220715,"af_nfe":8.79075e-6,"af_nfe_bgr":0.0,"af_nfe_est":0.0,"af_nfe_female":0.0,"af_nfe_male":0.0000157208,"af_nfe_nwe":0.0,"af_nfe_onf":0.0000322685,"af_nfe_seu":0.0,"af_nfe_swe":0.0,"af_oth":0.0,"af_oth_female":0.0,"af_oth_male":0.0,"af_sas":0.0,"af_sas_female":0.0,"af_sas_male":0.0},"alleles":"A","alt":"A","an":{"an":251480,"an_afr":16256,"an_afr_female":10070,"an_afr_male":6186,"an_amr":34592,"an_amr_female":20270,"an_amr_male":14322,"an_asj":10080,"an_asj_female":4900,"an_asj_male":5180,"an_eas":18394,"an_eas_female":9328,"an_eas_jpn":152,"an_eas_kor":3818,"an_eas_male":9066,"an_eas_oea":14424,"an_female":115558,"an_fin":21648,"an_fin_female":10374,"an_fin_male":11274,"an_male":135922,"an_nfe":113756,"an_nfe_bgr":2670,"an_nfe_est":240,"an_nfe_female":50146,"an_nfe_male":63610,"an_nfe_nwe":42220,"an_nfe_onf":30990,"an_nfe_seu":11504,"an_nfe_swe":26132,"an_oth":6138,"an_oth_female":2926,"an_oth_male":3212,"an_sas":30616,"an_sas_female":7544,"an_sas_male":23072},"baseqranksum":1.94,"chrom":"11","clippingranksum":-0.004,"dp":16991248,"fs":0.549,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_jpn":0,"hom_eas_kor":0,"hom_eas_male":0,"hom_eas_oea":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_bgr":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_nfe_swe":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0,"hom_sas":0,"hom_sas_female":0,"hom_sas_male":0},"inbreedingcoeff":0.0003,"mq":{"mq":58.78,"mqranksum":-0.555},"pab_max":0.793073,"pos":17387156,"qd":13.18,"readposranksum":-0.166,"ref":"G","rf":0.410603,"rsid":"rs139445409","sor":0.63,"type":"snp","vqslod":2.21,"vqsr_culprit":"FS"},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":4,"ac_afr":4,"ac_afr_xx":3,"ac_afr_xy":1,"ac_ami":0,"ac_ami_xx":0,"ac_ami_xy":0,"ac_amr":0,"ac_amr_xx":0,"ac_amr_xy":0,"ac_asj":0,"ac_asj_xx":0,"ac_asj_xy":0,"ac_eas":0,"ac_eas_xx":0,"ac_eas_xy":0,"ac_fin":0,"ac_fin_xx":0,"ac_fin_xy":0,"ac_mid":0,"ac_mid_xx":0,"ac_mid_xy":0,"ac_nfe":0,"ac_nfe_xx":0,"ac_nfe_xy":0,"ac_oth":0,"ac_oth_xx":0,"ac_oth_xy":0,"ac_sas":0,"ac_sas_xx":0,"ac_sas_xy":0,"ac_xx":3,"ac_xy":1},"af":{"af":0.0000262781,"af_afr":0.0000964739,"af_afr_xx":0.000135367,"af_afr_xy":0.0000518135,"af_ami":0.0,"af_ami_xx":0.0,"af_ami_xy":0.0,"af_amr":0.0,"af_amr_xx":0.0,"af_amr_xy":0.0,"af_asj":0.0,"af_asj_xx":0.0,"af_asj_xy":0.0,"af_eas":0.0,"af_eas_xx":0.0,"af_eas_xy":0.0,"af_fin":0.0,"af_fin_xx":0.0,"af_fin_xy":0.0,"af_mid":0.0,"af_mid_xx":0.0,"af_mid_xy":0.0,"af_nfe":0.0,"af_nfe_xx":0.0,"af_nfe_xy":0.0,"af_oth":0.0,"af_oth_xx":0.0,"af_oth_xy":0.0,"af_sas":0.0,"af_sas_xx":0.0,"af_sas_xy":0.0,"af_xx":0.0000385327,"af_xy":0.0000134477},"alleles":"A","alt":"A","an":{"an":152218,"an_afr":41462,"an_afr_xx":22162,"an_afr_xy":19300,"an_ami":912,"an_ami_xx":470,"an_ami_xy":442,"an_amr":15288,"an_amr_xx":6788,"an_amr_xy":8500,"an_asj":3472,"an_asj_xx":1868,"an_asj_xy":1604,"an_eas":5182,"an_eas_xx":2274,"an_eas_xy":2908,"an_fin":10626,"an_fin_xx":2574,"an_fin_xy":8052,"an_mid":316,"an_mid_xx":164,"an_mid_xy":152,"an_nfe":68038,"an_nfe_xx":39362,"an_nfe_xy":28676,"an_oth":2090,"an_oth_xx":1030,"an_oth_xy":1060,"an_sas":4832,"an_sas_xx":1164,"an_sas_xy":3668,"an_xx":77856,"an_xy":74362},"as_fs":4.23418,"as_mq":{"as_mq":60.0,"as_mqranksum":0.731},"as_pab_max":1.0,"as_qd":13.2919,"as_readposranksum":0.914,"as_sor":1.00663,"as_vqslod":6.1844,"chrom":"11","hom":{"hom":0,"hom_afr":0,"hom_afr_xx":0,"hom_afr_xy":0,"hom_ami":0,"hom_ami_xx":0,"hom_ami_xy":0,"hom_amr":0,"hom_amr_xx":0,"hom_amr_xy":0,"hom_asj":0,"hom_asj_xx":0,"hom_asj_xy":0,"hom_eas":0,"hom_eas_xx":0,"hom_eas_xy":0,"hom_fin":0,"hom_fin_xx":0,"hom_fin_xy":0,"hom_mid":0,"hom_mid_xx":0,"hom_mid_xy":0,"hom_nfe":0,"hom_nfe_xx":0,"hom_nfe_xy":0,"hom_oth":0,"hom_oth_xx":0,"hom_oth_xy":0,"hom_sas":0,"hom_sas_xx":0,"hom_sas_xy":0,"hom_xx":0,"hom_xy":0},"inbreedingcoeff":-0.0000263453,"pos":17387156,"ref":"G","rsid":"rs139445409","type":"snp"},"hg38":{"end":17387156,"start":17387156},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3411","position":"1504"},"cds":{"length":"1173","position":"936"},"effect":"synonymous_variant","feature_id":"NM_000525.3","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.936C>T","hgvs_p":"p.Gly312Gly","protein":{"length":"390","position":"312"},"putative_impact":"LOW","rank":"1","total":"1","transcript_biotype":"protein_coding"},{"cdna":{"length":"2756","position":"849"},"cds":{"length":"912","position":"675"},"effect":"synonymous_variant","feature_id":"NM_001166290.1","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.675C>T","hgvs_p":"p.Gly225Gly","protein":{"length":"303","position":"225"},"putative_impact":"LOW","rank":"2","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"17387156","ref":"G"}}