[{"most_severe_consequence":"missense_variant","allele_string":"C/A/T","transcript_consequences":[{"gene_symbol_source":"HGNC","strand":-1,"impact":"MODIFIER","cdna_end":718,"consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000453660","hgnc_id":"HGNC:79","gene_symbol":"ABO","variant_allele":"A","cdna_start":718,"biotype":"protein_coding_CDS_not_defined","gene_id":"ENSG00000175164"},{"hgnc_id":"HGNC:79","transcript_id":"ENST00000453660","consequence_terms":["non_coding_transcript_exon_variant"],"biotype":"protein_coding_CDS_not_defined","gene_id":"ENSG00000175164","variant_allele":"T","cdna_start":718,"gene_symbol":"ABO","strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC","cdna_end":718},{"sift_prediction":"deleterious","consequence_terms":["missense_variant"],"amino_acids":"G/V","polyphen_prediction":"possibly_damaging","cds_end":686,"polyphen_score":0.874,"gene_symbol_source":"HGNC","impact":"MODERATE","cdna_start":711,"variant_allele":"A","gene_symbol":"ABO","protein_start":229,"sift_score":0.01,"gene_id":"ENSG00000175164","biotype":"protein_coding","codons":"gGc/gTc","transcript_id":"ENST00000538324","hgnc_id":"HGNC:79","cdna_end":711,"cds_start":686,"protein_end":229,"strand":-1},{"polyphen_score":0.901,"cds_end":686,"impact":"MODERATE","gene_symbol_source":"HGNC","sift_prediction":"deleterious","polyphen_prediction":"possibly_damaging","amino_acids":"G/D","consequence_terms":["missense_variant"],"protein_end":229,"cds_start":686,"cdna_end":711,"strand":-1,"codons":"gGc/gAc","gene_id":"ENSG00000175164","biotype":"protein_coding","protein_start":229,"sift_score":0,"variant_allele":"T","gene_symbol":"ABO","cdna_start":711,"hgnc_id":"HGNC:79","transcript_id":"ENST00000538324"},{"polyphen_prediction":"possibly_damaging","amino_acids":"G/V","consequence_terms":["missense_variant"],"sift_prediction":"deleterious","impact":"MODERATE","gene_symbol_source":"HGNC","polyphen_score":0.823,"cds_end":686,"hgnc_id":"HGNC:79","transcript_id":"ENST00000611156","codons":"gGc/gTc","gene_id":"ENSG00000175164","biotype":"protein_coding","protein_start":229,"sift_score":0.01,"variant_allele":"A","cdna_start":716,"gene_symbol":"ABO","strand":-1,"protein_end":229,"cds_start":686,"cdna_end":716},{"cds_start":686,"protein_end":229,"cdna_end":716,"strand":-1,"codons":"gGc/gAc","gene_id":"ENSG00000175164","biotype":"protein_coding","sift_score":0,"protein_start":229,"variant_allele":"T","gene_symbol":"ABO","cdna_start":716,"hgnc_id":"HGNC:79","transcript_id":"ENST00000611156","polyphen_score":0.782,"cds_end":686,"impact":"MODERATE","gene_symbol_source":"HGNC","sift_prediction":"deleterious","polyphen_prediction":"possibly_damaging","amino_acids":"G/D","consequence_terms":["missense_variant"]},{"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":-1,"variant_allele":"A","gene_symbol":"ABO","gene_id":"ENSG00000175164","biotype":"protein_coding_CDS_not_defined","consequence_terms":["intron_variant","non_coding_transcript_variant"],"transcript_id":"ENST00000647353","hgnc_id":"HGNC:79"},{"gene_id":"ENSG00000175164","biotype":"protein_coding_CDS_not_defined","gene_symbol":"ABO","variant_allele":"T","hgnc_id":"HGNC:79","transcript_id":"ENST00000647353","consequence_terms":["intron_variant","non_coding_transcript_variant"],"strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC"},{"gene_symbol_source":"HGNC","strand":-1,"impact":"MODIFIER","distance":64,"consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000651471","hgnc_id":"HGNC:79","gene_symbol":"ABO","variant_allele":"A","biotype":"protein_coding_CDS_not_defined","gene_id":"ENSG00000175164"},{"distance":64,"impact":"MODIFIER","strand":-1,"gene_symbol_source":"HGNC","gene_id":"ENSG00000175164","biotype":"protein_coding_CDS_not_defined","gene_symbol":"ABO","variant_allele":"T","hgnc_id":"HGNC:79","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000651471"},{"variant_allele":"A","gene_symbol":"ABO","biotype":"protein_coding","gene_id":"ENSG00000175164","transcript_id":"ENST00000679909","consequence_terms":["intron_variant"],"hgnc_id":"HGNC:79","gene_symbol_source":"HGNC","strand":-1,"impact":"MODIFIER"},{"hgnc_id":"HGNC:79","transcript_id":"ENST00000679909","consequence_terms":["intron_variant"],"biotype":"protein_coding","gene_id":"ENSG00000175164","gene_symbol":"ABO","variant_allele":"T","impact":"MODIFIER","strand":-1,"gene_symbol_source":"HGNC"},{"variant_allele":"A","gene_symbol":"ABO","biotype":"protein_coding_CDS_not_defined","gene_id":"ENSG00000175164","consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000680600","hgnc_id":"HGNC:79","distance":3445,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":-1},{"hgnc_id":"HGNC:79","transcript_id":"ENST00000680600","consequence_terms":["upstream_gene_variant"],"gene_id":"ENSG00000175164","biotype":"protein_coding_CDS_not_defined","variant_allele":"T","gene_symbol":"ABO","strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC","distance":3445}],"strand":1,"id":"rs56116432","end":133256042,"start":133256042,"colocated_variants":[{"id":"rs56116432","end":133256042,"pubmed":[39058584],"allele_string":"C/A/T","start":133256042,"seq_region_name":"9","strand":1,"frequencies":{"T":{"gnomade_eas":0,"gnomade_mid":0.00122,"sas":0.001,"gnomade_fin":0.01486,"gnomade":0.003621,"gnomade_afr":0.0003679,"afr":0,"gnomadg_remaining":0.002365,"gnomadg_sas":0.0006211,"amr":0.0014,"af":0.0026,"gnomadg_ami":0,"gnomadg_amr":0.001765,"gnomade_asj":0.001803,"gnomade_remaining":0.003541,"gnomade_amr":0.00229,"gnomadg_nfe":0.003913,"gnomade_nfe":0.003584,"gnomadg":0.003043,"gnomade_sas":0.001513,"eas":0,"gnomadg_mid":0,"gnomadg_fin":0.01281,"gnomadg_afr":0.0005067,"gnomadg_eas":0,"eur":0.0109,"gnomadg_asj":0.001441},"A":{"gnomade_afr":0,"gnomade_nfe":0,"gnomade_sas":0,"gnomade":0,"gnomade_fin":0,"gnomade_remaining":0,"gnomade_amr":0,"gnomade_mid":0,"gnomade_eas":0,"gnomade_asj":0}}}],"input":"rs56116432","assembly_name":"GRCh38","seq_region_name":"9"},{"assembly_name":"GRCh38","seq_region_name":"HG2030_PATCH","input":"rs56116432","end":82135,"id":"rs56116432","start":82135,"colocated_variants":[{"pubmed":[39058584],"end":82135,"id":"rs56116432","strand":1,"seq_region_name":"HG2030_PATCH","start":82135,"allele_string":"C/A/T"}],"strand":1,"transcript_consequences":[{"transcript_id":"ENST00000644422","hgnc_id":"HGNC:79","cdna_start":701,"gene_symbol":"ABO","variant_allele":"A","sift_score":0.01,"protein_start":230,"biotype":"protein_coding","gene_id":"ENSG00000281879","codons":"gGc/gTc","strand":-1,"cdna_end":701,"protein_end":230,"cds_start":689,"consequence_terms":["missense_variant"],"amino_acids":"G/V","polyphen_prediction":"possibly_damaging","sift_prediction":"deleterious","gene_symbol_source":"HGNC","impact":"MODERATE","cds_end":689,"polyphen_score":0.823},{"gene_symbol_source":"HGNC","impact":"MODERATE","cds_end":689,"polyphen_score":0.782,"consequence_terms":["missense_variant"],"polyphen_prediction":"possibly_damaging","amino_acids":"G/D","sift_prediction":"deleterious","strand":-1,"cdna_end":701,"protein_end":230,"cds_start":689,"transcript_id":"ENST00000644422","hgnc_id":"HGNC:79","sift_score":0,"protein_start":230,"gene_symbol":"ABO","variant_allele":"T","cdna_start":701,"codons":"gGc/gAc","biotype":"protein_coding","gene_id":"ENSG00000281879"},{"cdna_end":562,"impact":"MODIFIER","strand":-1,"gene_symbol_source":"HGNC","biotype":"protein_coding","gene_id":"ENSG00000281879","gene_symbol":"ABO","cdna_start":562,"variant_allele":"A","hgnc_id":"HGNC:79","consequence_terms":["3_prime_UTR_variant"],"transcript_id":"ENST00000645810"},{"cdna_end":562,"strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC","gene_id":"ENSG00000281879","biotype":"protein_coding","cdna_start":562,"variant_allele":"T","gene_symbol":"ABO","hgnc_id":"HGNC:79","consequence_terms":["3_prime_UTR_variant"],"transcript_id":"ENST00000645810"},{"variant_allele":"A","gene_symbol":"ABO","biotype":"protein_coding_CDS_not_defined","gene_id":"ENSG00000281879","transcript_id":"ENST00000710349","consequence_terms":["intron_variant","non_coding_transcript_variant"],"hgnc_id":"HGNC:79","gene_symbol_source":"HGNC","impact":"MODIFIER","strand":-1},{"variant_allele":"T","gene_symbol":"ABO","biotype":"protein_coding_CDS_not_defined","gene_id":"ENSG00000281879","transcript_id":"ENST00000710349","consequence_terms":["intron_variant","non_coding_transcript_variant"],"hgnc_id":"HGNC:79","gene_symbol_source":"HGNC","impact":"MODIFIER","strand":-1},{"hgnc_id":"HGNC:79","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000710350","gene_id":"ENSG00000281879","biotype":"protein_coding_CDS_not_defined","gene_symbol":"ABO","variant_allele":"A","strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC","distance":64},{"strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC","distance":64,"hgnc_id":"HGNC:79","transcript_id":"ENST00000710350","consequence_terms":["downstream_gene_variant"],"gene_id":"ENSG00000281879","biotype":"protein_coding_CDS_not_defined","variant_allele":"T","gene_symbol":"ABO"},{"distance":3579,"impact":"MODIFIER","strand":-1,"gene_symbol_source":"HGNC","gene_id":"ENSG00000281879","biotype":"protein_coding_CDS_not_defined","gene_symbol":"ABO","variant_allele":"A","hgnc_id":"HGNC:79","consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000973069"},{"hgnc_id":"HGNC:79","transcript_id":"ENST00000973069","consequence_terms":["upstream_gene_variant"],"gene_id":"ENSG00000281879","biotype":"protein_coding_CDS_not_defined","gene_symbol":"ABO","variant_allele":"T","strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC","distance":3579},{"transcript_id":"ENST00000973070","consequence_terms":["intron_variant"],"hgnc_id":"HGNC:79","variant_allele":"A","gene_symbol":"ABO","gene_id":"ENSG00000281879","biotype":"protein_coding","gene_symbol_source":"HGNC","impact":"MODIFIER","strand":-1},{"gene_symbol_source":"HGNC","strand":-1,"impact":"MODIFIER","consequence_terms":["intron_variant"],"transcript_id":"ENST00000973070","hgnc_id":"HGNC:79","variant_allele":"T","gene_symbol":"ABO","biotype":"protein_coding","gene_id":"ENSG00000281879"}],"allele_string":"C/A/T","most_severe_consequence":"missense_variant"}]