--- 
MAF: ~
ambiguity: 'N'
evidence: 
  - Frequency
  - 1000Genomes
  - Cited
  - TOPMed
  - gnomAD
mappings: 
  - 
    allele_string: C/A/G/T
    ancestral_allele: C
    assembly_name: GRCh38
    coord_system: chromosome
    end: 24926827
    location: 7:24926827-24926827
    seq_region_name: 7
    start: 24926827
    strand: 1
minor_allele: ~
most_severe_consequence: intron_variant
name: rs123
source: Variants (including SNPs and indels) imported from dbSNP
synonyms: 
  - NM_000247.3:c.*78C>A
  - NM_001177519.3:c.*235C>A
  - NM_001177519.2:c.*235C>A
  - NM_000247.1:c.*78C>A
  - NM_001289152.2:c.*235C>A
  - NM_001289154.1:c.*235C>A
  - NM_000247.2:c.*78C>A
  - NM_001289152.1:c.*235C>A
  - NM_001177519.1:c.*235C>A
  - NM_001289154.2:c.*235C>A
  - NM_001289153.1:c.*235C>A
  - NM_001289153.2:c.*235C>A
  - rs17614680
  - rs57332242
var_class: SNP