biosynth/overlay_variants.json at main · OpenMined/biosynth · GitHub

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{
  "HERC2": {
    "description": "Eye color classifier variants from bioscript/examples/herc2/classify_herc2.py",
    "variants": [
      {
        "rsid": "rs12913832",
        "chromosome": "15",
        "position": 28120472,
        "reference": "A",
        "alternates": ["C", "G"]
      }
    ]
  },
  "APOL1": {
    "description": "Kidney risk genotype variants from bioscript/examples/apol1/classify_apol1.py",
    "variants": [
      {
        "rsid": "rs60910145",
        "chromosome": "22",
        "position": 36265988,
        "reference": "T",
        "alternates": ["C", "G"]
      },
      {
        "rsid": "rs71785313",
        "chromosome": "22",
        "position": 36266000,
        "reference": "I",
        "alternates": ["D"]
      },
      {
        "rsid": "rs73885319",
        "chromosome": "22",
        "position": 36265860,
        "reference": "A",
        "alternates": ["G"]
      }
    ]
  },
  "BRCA": {
    "description": "Sample BRCA1/2 ClinVar variants referenced in bioscript/examples/brca/classify_brca.py",
    "variants": [
      {
        "rsid": "rs80357336",
        "chromosome": "17",
        "position": 43045711,
        "reference": "G",
        "alternates": ["A", "C", "T"]
      },
      {
        "rsid": "rs886040303",
        "chromosome": "17",
        "position": 43045728,
        "reference": "G",
        "alternates": ["A", "C", "T"]
      },
      {
        "rsid": "rs397509295",
        "chromosome": "17",
        "position": 43045729,
        "reference": "G",
        "alternates": ["A", "C", "T"]
      },
      {
        "rsid": "rs80358650",
        "chromosome": "13",
        "position": 32316463,
        "reference": "G",
        "alternates": ["A", "C", "T"]
      },
      {
        "rsid": "rs397507571",
        "chromosome": "13",
        "position": 32316470,
        "reference": "G",
        "alternates": ["A", "C", "T"]
      }
    ]
  }
}