--- 
- 
  allele_string: T/C
  assembly_name: GRCh38
  colocated_variants: 
    - 
      allele_string: HGMD_MUTATION
      end: 230710048
      id: CM920010
      phenotype_or_disease: 1
      seq_region_name: 1
      start: 230710048
      strand: 1
    - 
      allele_string: A/G
      clin_sig: 
        - benign
        - risk_factor
      clin_sig_allele: G:risk_factor;G:benign
      end: 230710048
      frequencies: 
        C: 
          aa: '0.8268'
          afr: '0.9032'
          amr: '0.6354'
          ea: '0.4258'
          eas: '0.8532'
          eur: '0.4115'
          gnomad: '0.5481'
          gnomad_afr: '0.8451'
          gnomad_amr: '0.7196'
          gnomad_asj: '0.44'
          gnomad_eas: '0.8388'
          gnomad_fin: '0.441'
          gnomad_nfe: '0.4197'
          gnomad_oth: '0.5002'
          gnomad_sas: '0.6202'
          sas: '0.636'
      id: rs699
      minor_allele: A
      minor_allele_freq: '0.2949'
      phenotype_or_disease: 1
      pubmed: 
        - 21467728
        - 25741868
        - 19131662
        - 19263529
        - 19330901
        - 19559392
        - 27940662
        - 21146954
        - 18279468
        - 18513389
        - 20577119
        - 20981351
        - 21058046
        - 23133444
        - 26335431
        - 27480094
        - 27616475
        - 26824906
        - 25474356
        - 21894447
        - 23205182
        - 21919968
        - 21540342
        - 26819062
        - 21515823
        - 18603647
        - 27274104
        - 21681796
        - 1394429
        - 7649545
        - 7883995
        - 8348146
        - 8513325
        - 8518804
        - 9259580
        - 9421481
        - 9831339
        - 16059745
        - 18069999
        - 18248681
        - 18637188
        - 18653189
        - 18698212
        - 18953568
        - 19108684
        - 19770777
        - 19932491
        - 20029521
        - 20047954
        - 20061926
        - 20185782
        - 20486282
        - 20570668
        - 20592051
        - 20811292
        - 21056700
        - 21127830
        - 21261619
        - 21304999
        - 21306748
        - 21438754
        - 21444836
        - 21533139
        - 21573014
        - 21988197
        - 22099458
        - 22100073
        - 22531885
        - 22569109
        - 22817530
        - 22858200
        - 23021345
        - 23036011
        - 23132613
        - 23251296
        - 23287839
        - 23333443
        - 23354977
        - 23497168
        - 23681449
        - 23716723
        - 24452035
        - 24622918
        - 24722536
        - 24737640
        - 25512783
        - 25683681
        - 25723521
        - 26102248
        - 26283679
        - 26318936
        - 26509357
        - 26588355
        - 26621708
        - 26627480
        - 26818744
        - 26933222
        - 27068935
        - 27342049
        - 27348238
        - 27380726
        - 27454254
        - 27584680
        - 28361007
        - 28488548
        - 28605058
        - 28666769
        - 28690685
        - 28770234
        - 28828324
        - 28881807
        - 28903744
        - 29057680
        - 29520984
        - 2957843
      seq_region_name: 1
      start: 230710048
      strand: 1
  end: 230710048
  id: AGT:c.803T>C
  input: AGT:c.803T>C
  most_severe_consequence: missense_variant
  seq_region_name: 1
  start: 230710048
  strand: -1
  transcript_consequences: 
    - 
      amino_acids: M/T
      biotype: protein_coding
      cdna_end: 843
      cdna_start: 843
      cds_end: 803
      cds_start: 803
      codons: aTg/aCg
      consequence_terms: 
        - missense_variant
      gene_id: ENSG00000135744
      gene_symbol: AGT
      gene_symbol_source: HGNC
      hgnc_id: HGNC:333
      impact: MODERATE
      polyphen_prediction: benign
      polyphen_score: 0
      protein_end: 268
      protein_start: 268
      sift_prediction: tolerated
      sift_score: 1
      strand: -1
      transcript_id: ENST00000366667
      variant_allele: C
    - 
      biotype: lncRNA
      consequence_terms: 
        - downstream_gene_variant
      distance: 650
      gene_id: ENSG00000244137
      gene_symbol: AL512328.1
      gene_symbol_source: Clone_based_ensembl_gene
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000412344
      variant_allele: C