--- MAF: '0.00274725' ambiguity: H evidence: - Frequency - 1000Genomes - ESP - ExAC - TOPMed - gnomAD mappings: - allele_string: C/A/T ancestral_allele: C assembly_name: GRCh38 coord_system: chromosome end: 133256042 location: 9:133256042-133256042 seq_region_name: 9 start: 133256042 strand: 1 - allele_string: C/A/T ancestral_allele: ~ assembly_name: GRCh38 coord_system: scaffold end: 82135 location: HG2030_PATCH:82135-82135 seq_region_name: HG2030_PATCH start: 82135 strand: 1 minor_allele: T most_severe_consequence: missense_variant name: rs56116432 source: Variants (including SNPs and indels) imported from dbSNP synonyms: [] var_class: SNP