{
  "populations": [
    "PJL",
    "GIH",
    "BEB",
    "ITU",
    "STU",
    "SAS",
    "EUR",
    "EAS",
    "AFR",
    "AMR",
    "ALL"
  ],
  "pop_labels": {
    "PJL": "Punjabi (Lahore)",
    "GIH": "Gujarati",
    "BEB": "Bengali",
    "ITU": "Telugu (India)",
    "STU": "Sri Lankan Tamil",
    "SAS": "South Asian (all)",
    "EUR": "European",
    "EAS": "East Asian",
    "AFR": "African",
    "AMR": "Admixed American",
    "ALL": "Global"
  },
  "non_snp": {
    "MYBPC3_25bp_del": "25bp deletion in MYBPC3 intron (Dhandapany 2009). ~4% South Asian carrier frequency; near-absent elsewhere. Not a clean 1000G biallelic SNP \u2014 requires targeted genotype data, flagged as a whitespace for a dedicated genotyping pass."
  },
  "variants": [
    {
      "rsid": "rs7903146",
      "gene": "TCF7L2",
      "effect_allele": "T",
      "trait": "Type 2 diabetes (strongest common variant)",
      "disease": "t2d",
      "category": "cardiometabolic",
      "freqs": {
        "AFR": 0.2602,
        "ALL": 0.2278,
        "AMR": 0.2349,
        "BEB": 0.2791,
        "EAS": 0.0228,
        "EUR": 0.3171,
        "GIH": 0.2816,
        "ITU": 0.3382,
        "PJL": 0.25,
        "SAS": 0.2986,
        "STU": 0.3382
      },
      "strand_flipped": false,
      "most_severe_consequence": "intron_variant"
    },
    {
      "rsid": "rs5219",
      "gene": "KCNJ11",
      "effect_allele": "T",
      "trait": "Type 2 diabetes (E23K)",
      "disease": "t2d",
      "category": "cardiometabolic",
      "freqs": {
        "AFR": 0.0234,
        "ALL": 0.263,
        "AMR": 0.2925,
        "BEB": 0.4128,
        "EAS": 0.3383,
        "EUR": 0.3529,
        "GIH": 0.4175,
        "ITU": 0.4069,
        "PJL": 0.4427,
        "SAS": 0.3957,
        "STU": 0.3039
      },
      "strand_flipped": false,
      "most_severe_consequence": "stop_gained"
    },
    {
      "rsid": "rs13266634",
      "gene": "SLC30A8",
      "effect_allele": "C",
      "trait": "Type 2 diabetes (beta-cell zinc)",
      "disease": "t2d",
      "category": "cardiometabolic",
      "freqs": {
        "AFR": 0.9259,
        "ALL": 0.7448,
        "AMR": 0.7334,
        "BEB": 0.7093,
        "EAS": 0.5427,
        "EUR": 0.7167,
        "GIH": 0.7864,
        "ITU": 0.7157,
        "PJL": 0.7344,
        "SAS": 0.7454,
        "STU": 0.7745
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs1333049",
      "gene": "9p21/CDKN2B-AS1",
      "effect_allele": "C",
      "trait": "Coronary artery disease",
      "disease": "cad",
      "category": "cardiometabolic",
      "freqs": {
        "AFR": 0.2133,
        "ALL": 0.4181,
        "AMR": 0.4553,
        "BEB": 0.5,
        "EAS": 0.5367,
        "EUR": 0.4722,
        "GIH": 0.4709,
        "ITU": 0.5441,
        "PJL": 0.4948,
        "SAS": 0.4908,
        "STU": 0.4461
      },
      "strand_flipped": false,
      "most_severe_consequence": "intergenic_variant"
    },
    {
      "rsid": "rs10757278",
      "gene": "9p21/CDKN2B-AS1",
      "effect_allele": "G",
      "trait": "Coronary artery disease",
      "disease": "cad",
      "category": "cardiometabolic",
      "freqs": {
        "AFR": 0.1589,
        "ALL": 0.4081,
        "AMR": 0.4553,
        "BEB": 0.5291,
        "EAS": 0.5437,
        "EUR": 0.4742,
        "GIH": 0.4806,
        "ITU": 0.549,
        "PJL": 0.5052,
        "SAS": 0.5041,
        "STU": 0.4608
      },
      "strand_flipped": false,
      "most_severe_consequence": "intergenic_variant"
    },
    {
      "rsid": "rs10455872",
      "gene": "LPA",
      "effect_allele": "G",
      "trait": "Elevated lipoprotein(a) / CAD",
      "disease": "cad",
      "category": "cardiometabolic",
      "freqs": {
        "AFR": 0.0023,
        "ALL": 0.0222,
        "AMR": 0.0331,
        "BEB": 0.0233,
        "EAS": 0.005,
        "EUR": 0.0736,
        "GIH": 0.0,
        "ITU": 0.0049,
        "PJL": 0.0052,
        "SAS": 0.0061,
        "STU": 0.0
      },
      "strand_flipped": false,
      "most_severe_consequence": "intron_variant"
    },
    {
      "rsid": "rs3798220",
      "gene": "LPA",
      "effect_allele": "C",
      "trait": "Elevated lipoprotein(a) / CAD",
      "disease": "cad",
      "category": "cardiometabolic",
      "freqs": {
        "AFR": 0.0045,
        "ALL": 0.0513,
        "AMR": 0.2161,
        "BEB": 0.0,
        "EAS": 0.0883,
        "EUR": 0.0099,
        "GIH": 0.0,
        "ITU": 0.0,
        "PJL": 0.0052,
        "SAS": 0.002,
        "STU": 0.0049
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs6025",
      "gene": "F5",
      "effect_allele": "T",
      "trait": "Factor V Leiden / thrombosis (rare in S.Asia)",
      "disease": "cad",
      "category": "cardiometabolic",
      "freqs": {
        "AFR": 0.0,
        "ALL": 0.006,
        "AMR": 0.0101,
        "BEB": 0.0174,
        "EAS": 0.0,
        "EUR": 0.0119,
        "GIH": 0.0049,
        "ITU": 0.0,
        "PJL": 0.0156,
        "SAS": 0.0112,
        "STU": 0.0196
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs4244285",
      "gene": "CYP2C19*2",
      "effect_allele": "A",
      "trait": "Clopidogrel non-response (loss-of-function)",
      "disease": "cad",
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.1702,
        "ALL": 0.2214,
        "AMR": 0.1052,
        "BEB": 0.3256,
        "EAS": 0.3125,
        "EUR": 0.1451,
        "GIH": 0.3301,
        "ITU": 0.3725,
        "PJL": 0.3438,
        "SAS": 0.3579,
        "STU": 0.4118
      },
      "strand_flipped": false,
      "most_severe_consequence": "synonymous_variant"
    },
    {
      "rsid": "rs4986893",
      "gene": "CYP2C19*3",
      "effect_allele": "A",
      "trait": "Clopidogrel non-response (loss-of-function)",
      "disease": "cad",
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0023,
        "ALL": 0.0142,
        "AMR": 0.0,
        "BEB": 0.0233,
        "EAS": 0.0556,
        "EUR": 0.0,
        "GIH": 0.0049,
        "ITU": 0.0049,
        "PJL": 0.0156,
        "SAS": 0.0123,
        "STU": 0.0147
      },
      "strand_flipped": false,
      "most_severe_consequence": "stop_gained"
    },
    {
      "rsid": "rs12248560",
      "gene": "CYP2C19*17",
      "effect_allele": "T",
      "trait": "Ultra-rapid metaboliser",
      "disease": "cad",
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.2352,
        "ALL": 0.1532,
        "AMR": 0.1196,
        "BEB": 0.1105,
        "EAS": 0.0149,
        "EUR": 0.2237,
        "GIH": 0.1359,
        "ITU": 0.1422,
        "PJL": 0.1458,
        "SAS": 0.136,
        "STU": 0.1422
      },
      "strand_flipped": false,
      "most_severe_consequence": "intron_variant"
    },
    {
      "rsid": "rs1057910",
      "gene": "CYP2C9*3",
      "effect_allele": "C",
      "trait": "Warfarin sensitivity",
      "disease": "cad",
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0023,
        "ALL": 0.0485,
        "AMR": 0.0375,
        "BEB": 0.1163,
        "EAS": 0.0337,
        "EUR": 0.0726,
        "GIH": 0.1311,
        "ITU": 0.1029,
        "PJL": 0.099,
        "SAS": 0.1094,
        "STU": 0.098
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs9923231",
      "gene": "VKORC1",
      "effect_allele": "T",
      "trait": "Warfarin dose requirement",
      "disease": "cad",
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0545,
        "ALL": 0.3556,
        "AMR": 0.4107,
        "BEB": 0.157,
        "EAS": 0.8849,
        "EUR": 0.3877,
        "GIH": 0.1748,
        "ITU": 0.0931,
        "PJL": 0.1979,
        "SAS": 0.1452,
        "STU": 0.1078
      },
      "strand_flipped": false,
      "most_severe_consequence": "intergenic_variant"
    },
    {
      "rsid": "rs3892097",
      "gene": "CYP2D6*4",
      "effect_allele": "A",
      "trait": "Poor metaboliser (codeine, many drugs)",
      "disease": null,
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0605,
        "ALL": 0.0931,
        "AMR": 0.1297,
        "BEB": 0.1221,
        "EAS": 0.002,
        "EUR": 0.1859,
        "GIH": 0.1262,
        "ITU": 0.1127,
        "PJL": 0.0781,
        "SAS": 0.1094,
        "STU": 0.1078
      },
      "strand_flipped": true,
      "most_severe_consequence": "splice_acceptor_variant"
    },
    {
      "rsid": "rs116855232",
      "gene": "NUDT15",
      "effect_allele": "T",
      "trait": "Thiopurine toxicity (key in Asians)",
      "disease": null,
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0008,
        "ALL": 0.0395,
        "AMR": 0.0447,
        "BEB": 0.064,
        "EAS": 0.0952,
        "EUR": 0.002,
        "GIH": 0.0388,
        "ITU": 0.0784,
        "PJL": 0.0833,
        "SAS": 0.0695,
        "STU": 0.0833
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs1142345",
      "gene": "TPMT*3C",
      "effect_allele": "C",
      "trait": "Thiopurine toxicity",
      "disease": null,
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0666,
        "ALL": 0.0391,
        "AMR": 0.0576,
        "BEB": 0.0291,
        "EAS": 0.0218,
        "EUR": 0.0288,
        "GIH": 0.0243,
        "ITU": 0.0196,
        "PJL": 0.0104,
        "SAS": 0.0174,
        "STU": 0.0049
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs1050828",
      "gene": "G6PD",
      "effect_allele": "T",
      "trait": "G6PD deficiency (A-) \u2014 oxidant-drug haemolysis",
      "disease": "g6pd",
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.1346,
        "ALL": 0.0376,
        "AMR": 0.0134,
        "BEB": 0.0,
        "EAS": 0.0,
        "EUR": 0.0,
        "GIH": 0.0,
        "ITU": 0.0,
        "PJL": 0.0,
        "SAS": 0.0,
        "STU": 0.0
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs762551",
      "gene": "CYP1A2",
      "effect_allele": "A",
      "trait": "Fast caffeine metaboliser (*1F)",
      "disease": null,
      "category": "lifestyle",
      "freqs": {
        "AFR": 0.562,
        "ALL": 0.6298,
        "AMR": 0.7579,
        "BEB": 0.5756,
        "EAS": 0.6726,
        "EUR": 0.6799,
        "GIH": 0.5243,
        "ITU": 0.5441,
        "PJL": 0.5417,
        "SAS": 0.5348,
        "STU": 0.4951
      },
      "strand_flipped": false,
      "most_severe_consequence": "intron_variant"
    },
    {
      "rsid": "rs4988235",
      "gene": "MCM6/LCT",
      "effect_allele": "A",
      "trait": "Lactase persistence (tolerate dairy)",
      "disease": null,
      "category": "lifestyle",
      "freqs": {
        "AFR": 0.0272,
        "ALL": 0.1613,
        "AMR": 0.2161,
        "BEB": 0.0581,
        "EAS": 0.0,
        "EUR": 0.508,
        "GIH": 0.1408,
        "ITU": 0.0588,
        "PJL": 0.2604,
        "SAS": 0.1135,
        "STU": 0.049
      },
      "strand_flipped": false,
      "most_severe_consequence": "intron_variant"
    },
    {
      "rsid": "rs671",
      "gene": "ALDH2",
      "effect_allele": "A",
      "trait": "Alcohol flush (East-Asian; contrast)",
      "disease": null,
      "category": "lifestyle",
      "freqs": {
        "AFR": 0.0015,
        "ALL": 0.0357,
        "AMR": 0.0029,
        "BEB": 0.0,
        "EAS": 0.1736,
        "EUR": 0.0,
        "GIH": 0.0,
        "ITU": 0.0,
        "PJL": 0.0,
        "SAS": 0.0,
        "STU": 0.0
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs1229984",
      "gene": "ADH1B",
      "effect_allele": "A",
      "trait": "Fast alcohol metaboliser",
      "disease": null,
      "category": "lifestyle",
      "freqs": {
        "AFR": 0.0015,
        "ALL": 0.1585,
        "AMR": 0.0576,
        "BEB": 0.0174,
        "EAS": 0.6974,
        "EUR": 0.0288,
        "GIH": 0.0243,
        "ITU": 0.0147,
        "PJL": 0.0417,
        "SAS": 0.0204,
        "STU": 0.0049
      },
      "strand_flipped": true,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs1801133",
      "gene": "MTHFR",
      "effect_allele": "T",
      "trait": "Folate metabolism (C677T)",
      "disease": null,
      "category": "lifestyle",
      "freqs": {
        "AFR": 0.09,
        "ALL": 0.2454,
        "AMR": 0.4741,
        "BEB": 0.1221,
        "EAS": 0.2956,
        "EUR": 0.3648,
        "GIH": 0.1505,
        "ITU": 0.1029,
        "PJL": 0.1354,
        "SAS": 0.1186,
        "STU": 0.0833
      },
      "strand_flipped": true,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs1815739",
      "gene": "ACTN3",
      "effect_allele": "T",
      "trait": "Endurance vs sprint muscle (R577X)",
      "disease": null,
      "category": "lifestyle",
      "freqs": {
        "AFR": 0.115,
        "ALL": 0.4008,
        "AMR": 0.572,
        "BEB": 0.5756,
        "EAS": 0.4435,
        "EUR": 0.4344,
        "GIH": 0.568,
        "ITU": 0.6127,
        "PJL": 0.5208,
        "SAS": 0.5869,
        "STU": 0.652
      },
      "strand_flipped": false,
      "most_severe_consequence": "stop_gained"
    },
    {
      "rsid": "rs334",
      "gene": "HBB",
      "effect_allele": "A",
      "trait": "Sickle cell / HbS (note: 1000G S.Asian samples miss tribal India)",
      "disease": "sickle",
      "category": "haematologic",
      "freqs": {
        "AFR": 0.0998,
        "ALL": 0.0274,
        "AMR": 0.0072,
        "BEB": 0.0,
        "EAS": 0.0,
        "EUR": 0.0,
        "GIH": 0.0,
        "ITU": 0.0,
        "PJL": 0.0,
        "SAS": 0.0,
        "STU": 0.0
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs33930165",
      "gene": "HBB",
      "effect_allele": "A",
      "trait": "HbC / beta-globin variant",
      "disease": "beta_thal",
      "category": "haematologic",
      "freqs": {
        "AFR": 0.0129,
        "ALL": 0.0034,
        "AMR": 0.0,
        "BEB": 0.0,
        "EAS": 0.0,
        "EUR": 0.0,
        "GIH": 0.0,
        "ITU": 0.0,
        "PJL": 0.0,
        "SAS": 0.0,
        "STU": 0.0
      },
      "strand_flipped": true,
      "most_severe_consequence": "stop_gained"
    },
    {
      "rsid": "rs4149056",
      "gene": "SLCO1B1",
      "effect_allele": "C",
      "trait": "Statin myopathy risk (reduced transport)",
      "disease": null,
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0136,
        "ALL": 0.0877,
        "AMR": 0.134,
        "BEB": 0.0523,
        "EAS": 0.123,
        "EUR": 0.161,
        "GIH": 0.0194,
        "ITU": 0.0637,
        "PJL": 0.0365,
        "SAS": 0.0429,
        "STU": 0.0441
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs776746",
      "gene": "CYP3A5*3",
      "effect_allele": "G",
      "trait": "Tacrolimus / immunosuppressant dosing",
      "disease": null,
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.18,
        "ALL": 0.6214,
        "AMR": 0.7968,
        "BEB": 0.6337,
        "EAS": 0.7133,
        "EUR": 0.9433,
        "GIH": 0.7233,
        "ITU": 0.6765,
        "PJL": 0.6354,
        "SAS": 0.6677,
        "STU": 0.6618
      },
      "strand_flipped": true,
      "most_severe_consequence": "intron_variant"
    },
    {
      "rsid": "rs1065852",
      "gene": "CYP2D6*10",
      "effect_allele": "A",
      "trait": "Reduced metaboliser (common in Asians)",
      "disease": null,
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.1127,
        "ALL": 0.238,
        "AMR": 0.1484,
        "BEB": 0.2558,
        "EAS": 0.5714,
        "EUR": 0.2018,
        "GIH": 0.1505,
        "ITU": 0.1716,
        "PJL": 0.1042,
        "SAS": 0.1646,
        "STU": 0.152
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs1799853",
      "gene": "CYP2C9*2",
      "effect_allele": "T",
      "trait": "Warfarin sensitivity",
      "disease": "cad",
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0083,
        "ALL": 0.0479,
        "AMR": 0.0994,
        "BEB": 0.0174,
        "EAS": 0.001,
        "EUR": 0.1243,
        "GIH": 0.0485,
        "ITU": 0.0245,
        "PJL": 0.0521,
        "SAS": 0.0348,
        "STU": 0.0294
      },
      "strand_flipped": false,
      "most_severe_consequence": "missense_variant"
    },
    {
      "rsid": "rs3918290",
      "gene": "DPYD",
      "effect_allele": "T",
      "trait": "Fluoropyrimidine (5-FU) chemo toxicity",
      "disease": null,
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.0008,
        "ALL": 0.003,
        "AMR": 0.0014,
        "BEB": 0.0,
        "EAS": 0.0,
        "EUR": 0.005,
        "GIH": 0.0146,
        "ITU": 0.0,
        "PJL": 0.0104,
        "SAS": 0.0082,
        "STU": 0.0147
      },
      "strand_flipped": false,
      "most_severe_consequence": "splice_donor_variant"
    },
    {
      "rsid": "rs12979860",
      "gene": "IFNL3/IL28B",
      "effect_allele": "T",
      "trait": "Hepatitis-C treatment response",
      "disease": null,
      "category": "pharmacogenomics",
      "freqs": {
        "AFR": 0.6694,
        "ALL": 0.3558,
        "AMR": 0.3991,
        "BEB": 0.1977,
        "EAS": 0.0804,
        "EUR": 0.3091,
        "GIH": 0.2379,
        "ITU": 0.2353,
        "PJL": 0.2396,
        "SAS": 0.2331,
        "STU": 0.25
      },
      "strand_flipped": false,
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}