--- 
- 
  allele_string: G/A/C
  assembly_name: GRCh38
  colocated_variants: 
    - 
      allele_string: G/A/C
      clin_sig: 
        - benign
      clin_sig_allele: C:benign
      end: 23047257
      frequencies: 
        A: 
          gnomadg: '1.315e-05'
          gnomadg_afr: 0
          gnomadg_ami: 0
          gnomadg_amr: 0
          gnomadg_asj: 0
          gnomadg_eas: 0
          gnomadg_fin: 0
          gnomadg_mid: 0
          gnomadg_nfe: '2.941e-05'
          gnomadg_remaining: 0
          gnomadg_sas: 0
        C: 
          af: '0.0008'
          afr: '0.0008'
          amr: 0
          eas: 0
          eur: '0.003'
          gnomade: '0.002737'
          gnomade_afr: 0
          gnomade_amr: '0.00289'
          gnomade_asj: 0
          gnomade_eas: 0
          gnomade_fin: 0
          gnomade_mid: 0
          gnomade_nfe: '0.003482'
          gnomade_remaining: 0
          gnomade_sas: 0
          gnomadg: '0.003752'
          gnomadg_afr: '0.0004574'
          gnomadg_ami: 0
          gnomadg_amr: '0.006081'
          gnomadg_asj: '0.00692'
          gnomadg_eas: 0
          gnomadg_fin: '0.01654'
          gnomadg_mid: 0
          gnomadg_nfe: '0.00378'
          gnomadg_remaining: '0.001419'
          gnomadg_sas: 0
          sas: 0
      id: rs41282276
      phenotype_or_disease: 1
      seq_region_name: 20
      start: 23047257
      strand: 1
      var_synonyms: 
        ClinVar: 
          - RCV000374516
          - VCV000337868
  end: 23047257
  id: rs41282276
  input: rs41282276
  most_severe_consequence: 3_prime_UTR_variant
  regulatory_feature_consequences: 
    - 
      biotype: enhancer
      consequence_terms: 
        - regulatory_region_variant
      impact: MODIFIER
      regulatory_feature_id: ENSR20_8N9ZH
      variant_allele: A
    - 
      biotype: enhancer
      consequence_terms: 
        - regulatory_region_variant
      impact: MODIFIER
      regulatory_feature_id: ENSR20_8N9ZH
      variant_allele: C
  seq_region_name: 20
  start: 23047257
  strand: 1
  transcript_consequences: 
    - 
      biotype: protein_coding
      cdna_end: 2416
      cdna_start: 2416
      consequence_terms: 
        - 3_prime_UTR_variant
      gene_id: ENSG00000178726
      gene_symbol: THBD
      gene_symbol_source: HGNC
      hgnc_id: HGNC:11784
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000377103
      variant_allele: A
    - 
      biotype: protein_coding
      cdna_end: 2416
      cdna_start: 2416
      consequence_terms: 
        - 3_prime_UTR_variant
      gene_id: ENSG00000178726
      gene_symbol: THBD
      gene_symbol_source: HGNC
      hgnc_id: HGNC:11784
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000377103
      variant_allele: C
    - 
      biotype: lncRNA
      consequence_terms: 
        - upstream_gene_variant
      distance: 2922
      gene_id: ENSG00000296463
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000739778
      variant_allele: A
    - 
      biotype: lncRNA
      consequence_terms: 
        - upstream_gene_variant
      distance: 2922
      gene_id: ENSG00000296463
      impact: MODIFIER
      strand: 1
      transcript_id: ENST00000739778
      variant_allele: C
    - 
      biotype: lncRNA
      consequence_terms: 
        - intron_variant
        - non_coding_transcript_variant
      gene_id: ENSG00000296483
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000739851
      variant_allele: A
    - 
      biotype: lncRNA
      consequence_terms: 
        - intron_variant
        - non_coding_transcript_variant
      gene_id: ENSG00000296483
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000739851
      variant_allele: C
    - 
      biotype: lncRNA
      consequence_terms: 
        - downstream_gene_variant
      distance: 2437
      gene_id: ENSG00000296483
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000739852
      variant_allele: A
    - 
      biotype: lncRNA
      consequence_terms: 
        - downstream_gene_variant
      distance: 2437
      gene_id: ENSG00000296483
      impact: MODIFIER
      strand: -1
      transcript_id: ENST00000739852
      variant_allele: C