{"_id":"chr12:g.102846752T>C","_version":1,"chrom":"12","dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"T","freq":{"korea1k":0.999,"korean":0.999}},{"allele":"C","freq":{"korea1k":0.001,"korean":0.001}}],"alt":"C","chrom":"12","dbsnp_build":156,"gene":{"geneid":5053,"is_pseudo":false,"name":"phenylalanine hydroxylase","rnas":[{"hgvs":"NM_000277.3:c.969+143=","protein_product":{"refseq":"NP_000268.1"},"refseq":"NM_000277.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001354304.2:c.969+143=","protein_product":{"refseq":"NP_001341233.1"},"refseq":"NM_001354304.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"protein_product":{"refseq":"XP_016874859.1"},"refseq":"XM_017019370.2","so":[{"accession":"SO:0002152","name":"genic_downstream_transcript_variant"}]}],"strand":"-","symbol":"PAH"},"hg38":{"end":102846752,"start":102846752},"ref":"T","rsid":"rs1294203437","vartype":"snv"},"hg38":{"end":102846752,"start":102846752},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"effect":"intron_variant","feature_id":"NM_000277.1","feature_type":"transcript","gene_id":"PAH","genename":"PAH","hgvs_c":"c.969+143A>G","putative_impact":"MODIFIER","rank":"9","total":"12","transcript_biotype":"protein_coding"}},"vcf":{"alt":"C","position":"102846752","ref":"T"}}