{
  "source_sha256": "7e4217187dad8905987c5251125395e693b9563d6b5ca03dfd5cd578c4b48722",
  "coverage": {
    "F11": {
      "rows": 0,
      "variants": 0,
      "status": "no_observations_in_supplied_dataset"
    },
    "F7": {
      "rows": 2,
      "variants": 2,
      "status": "supplied_observations"
    },
    "GSPT1": {
      "rows": 0,
      "variants": 0,
      "status": "no_observations_in_supplied_dataset"
    },
    "MYC": {
      "rows": 0,
      "variants": 0,
      "status": "no_observations_in_supplied_dataset"
    }
  },
  "observation_count": 2,
  "independent_source_verification": "not_completed",
  "records": [
    {
      "rsid": "rs121964931",
      "target_gene": "F7",
      "population": "RUSeq:healthy_donor_subgroup:publication_2024",
      "population_code": "RUSeq_HEALTHY_2024",
      "population_level": "study_subgroup",
      "allele_number_derived": "",
      "denominator_method": "not_reported; not_inferred_from_rounded_AF",
      "dataset": "RUSeq publication 2024 (healthy subgroup)",
      "source_id": "RUSeq",
      "via_source_id": "NSR_nwae326",
      "source_url": "https://academic.oup.com/nsr/article/11/10/nwae326/7758245",
      "retrieved_utc": "2026-10-21T12:33:02.821629+00:00",
      "ensembl_release": "",
      "assembly": "GRCh38",
      "is_russian_cohort": "True",
      "is_synthetic": "False",
      "focus_allele": "T",
      "allele_count": "",
      "allele_frequency_source": "0.0009",
      "allele_frequency_recalculated": "",
      "requested_rsid": "rs121964931",
      "chromosome": "13",
      "position": "113118518",
      "end_position": "113118518",
      "reference_allele": "C",
      "mapping_alleles": "C/T",
      "mapping_strand": "1",
      "is_reference_allele": "False",
      "gene_ensembl_id": "ENSG00000057593",
      "target_gene_relation": "within_gene_coordinates",
      "most_severe_consequence": "missense_variant",
      "primary_dataset": "RUSeq",
      "primary_dataset_version": "publication_2024",
      "sequencing_type": "WES",
      "validation_status": "published_RF_AF_verified_AN_unavailable",
      "validation_notes": "AF verified in peer-reviewed publication. Exact AN unavailable; recalculated AF intentionally blank. Initial healthy subgroup N is not per-site callable N. AC not reported in inspected main text; not inferred from AF.",
      "cohort_description": "RUSeq healthy subgroup; samples collected in Moscow and St Petersburg; nearly all participants resident in Russia or former USSR republics; not a nationwide representative sample",
      "cohort_n_initial": "1945",
      "allele_number_status": "not_reported_per_site",
      "source_locator": "Results; paragraph about F7 enrichment",
      "source_record_index": "",
      "raw_sha256": "",
      "frequency_difference": "",
      "source_frequency_sum": "",
      "record_origin": "RF_publication",
      "variant_selection": "",
      "clinical_labels_site_level": ""
    },
    {
      "rsid": "rs36209567",
      "target_gene": "F7",
      "population": "RUSeq:healthy_donor_subgroup:publication_2024",
      "population_code": "RUSeq_HEALTHY_2024",
      "population_level": "study_subgroup",
      "allele_number_derived": "",
      "denominator_method": "not_reported; not_inferred_from_rounded_AF",
      "dataset": "RUSeq publication 2024 (healthy subgroup)",
      "source_id": "RUSeq",
      "via_source_id": "NSR_nwae326",
      "source_url": "https://academic.oup.com/nsr/article/11/10/nwae326/7758245",
      "retrieved_utc": "2026-10-21T12:33:02.821629+00:00",
      "ensembl_release": "",
      "assembly": "GRCh38",
      "is_russian_cohort": "True",
      "is_synthetic": "False",
      "focus_allele": "T",
      "allele_count": "18",
      "allele_frequency_source": "0.0054",
      "allele_frequency_recalculated": "",
      "requested_rsid": "rs36209567",
      "chromosome": "13",
      "position": "113118668",
      "end_position": "113118668",
      "reference_allele": "C",
      "mapping_alleles": "C/T",
      "mapping_strand": "1",
      "is_reference_allele": "False",
      "gene_ensembl_id": "ENSG00000057593",
      "target_gene_relation": "within_gene_coordinates",
      "most_severe_consequence": "missense_variant",
      "primary_dataset": "RUSeq",
      "primary_dataset_version": "publication_2024",
      "sequencing_type": "WES",
      "validation_status": "published_RF_AF_verified_AN_unavailable",
      "validation_notes": "AF verified in peer-reviewed publication. Exact AN unavailable; recalculated AF intentionally blank. Initial healthy subgroup N is not per-site callable N. Table 1 coordinate/alleles for this rsID appear inconsistent with ClinVar; use ClinVar GRCh38 annotation, not table coordinate.",
      "cohort_description": "RUSeq healthy subgroup; samples collected in Moscow and St Petersburg; nearly all participants resident in Russia or former USSR republics; not a nationwide representative sample",
      "cohort_n_initial": "1945",
      "allele_number_status": "not_reported_per_site",
      "source_locator": "Table 1 and Results; healthy donor subgroup",
      "source_record_index": "",
      "raw_sha256": "",
      "frequency_difference": "",
      "source_frequency_sum": "",
      "record_origin": "RF_publication",
      "variant_selection": "",
      "clinical_labels_site_level": ""
    }
  ]
}