{
  "note": "AlphaMissense scores MISSENSE variants only; common variants are usually benign. Real research yield comes from scaling to rare / novel India-specific variants.",
  "variants": [
    {
      "rsid": "rs7903146",
      "gene": "TCF7L2",
      "trait": "Type 2 diabetes (strongest common variant)",
      "sa_max_freq": 0.3382,
      "eur_freq": 0.3171,
      "alt": "T",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "risk factor",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs5219",
      "gene": "KCNJ11",
      "trait": "Type 2 diabetes (E23K)",
      "sa_max_freq": 0.4427,
      "eur_freq": 0.3529,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": true
    },
    {
      "rsid": "rs13266634",
      "gene": "SLC30A8",
      "trait": "Type 2 diabetes (beta-cell zinc)",
      "sa_max_freq": 0.7864,
      "eur_freq": 0.7167,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": true
    },
    {
      "rsid": "rs1333049",
      "gene": "9p21/CDKN2B-AS1",
      "trait": "Coronary artery disease",
      "sa_max_freq": 0.5441,
      "eur_freq": 0.4722,
      "alt": "C",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "risk factor",
      "priority": null,
      "sa_enriched": true
    },
    {
      "rsid": "rs10757278",
      "gene": "9p21/CDKN2B-AS1",
      "trait": "Coronary artery disease",
      "sa_max_freq": 0.549,
      "eur_freq": 0.4742,
      "alt": "G",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": true
    },
    {
      "rsid": "rs10455872",
      "gene": "LPA",
      "trait": "Elevated lipoprotein(a) / CAD",
      "sa_max_freq": 0.0233,
      "eur_freq": 0.0736,
      "alt": "G",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "Benign",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs3798220",
      "gene": "LPA",
      "trait": "Elevated lipoprotein(a) / CAD",
      "sa_max_freq": 0.0052,
      "eur_freq": 0.0099,
      "alt": "C",
      "am_pred": "B",
      "am_score": 0.1951,
      "sift_pred": "T",
      "polyphen_pred": null,
      "clinvar": "Benign",
      "priority": 0.001,
      "sa_enriched": false
    },
    {
      "rsid": "rs6025",
      "gene": "F5",
      "trait": "Factor V Leiden / thrombosis (rare in S.Asia)",
      "sa_max_freq": 0.0196,
      "eur_freq": 0.0119,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs4244285",
      "gene": "CYP2C19*2",
      "trait": "Clopidogrel non-response (loss-of-function)",
      "sa_max_freq": 0.4118,
      "eur_freq": 0.1451,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "Likely benign, Likely benign; other, drug response",
      "priority": null,
      "sa_enriched": true
    },
    {
      "rsid": "rs4986893",
      "gene": "CYP2C19*3",
      "trait": "Clopidogrel non-response (loss-of-function)",
      "sa_max_freq": 0.0233,
      "eur_freq": 0.0,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "Benign; other, drug response",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs12248560",
      "gene": "CYP2C19*17",
      "trait": "Ultra-rapid metaboliser",
      "sa_max_freq": 0.1458,
      "eur_freq": 0.2237,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs1057910",
      "gene": "CYP2C9*3",
      "trait": "Warfarin sensitivity",
      "sa_max_freq": 0.1311,
      "eur_freq": 0.0726,
      "alt": "C",
      "am_pred": "B",
      "am_score": 0.1487,
      "sift_pred": "D",
      "polyphen_pred": "B",
      "clinvar": "drug response, other",
      "priority": 0.0195,
      "sa_enriched": true
    },
    {
      "rsid": "rs9923231",
      "gene": "VKORC1",
      "trait": "Warfarin dose requirement",
      "sa_max_freq": 0.1979,
      "eur_freq": 0.3877,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs3892097",
      "gene": "CYP2D6*4",
      "trait": "Poor metaboliser (codeine, many drugs)",
      "sa_max_freq": 0.1262,
      "eur_freq": 0.1859,
      "alt": "T",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "Likely benign, drug response, other",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs116855232",
      "gene": "NUDT15",
      "trait": "Thiopurine toxicity (key in Asians)",
      "sa_max_freq": 0.0833,
      "eur_freq": 0.002,
      "alt": "T",
      "am_pred": "B",
      "am_score": 0.1589,
      "sift_pred": "T",
      "polyphen_pred": "P",
      "clinvar": "Likely benign, drug response",
      "priority": 0.0132,
      "sa_enriched": true
    },
    {
      "rsid": "rs1142345",
      "gene": "TPMT*3C",
      "trait": "Thiopurine toxicity",
      "sa_max_freq": 0.0291,
      "eur_freq": 0.0288,
      "alt": "G",
      "am_pred": "P",
      "am_score": 0.7457,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": null,
      "priority": 0.0217,
      "sa_enriched": false
    },
    {
      "rsid": "rs1050828",
      "gene": "G6PD",
      "trait": "G6PD deficiency (A-) — oxidant-drug haemolysis",
      "sa_max_freq": 0.0,
      "eur_freq": 0.0,
      "alt": "T",
      "am_pred": "A",
      "am_score": 0.4996,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Likely pathogenic, Likely pathogenic/Established risk allele, Pathogenic, Pathogenic/Likely pathogenic, Uncertain significance, other",
      "priority": 0.0,
      "sa_enriched": false
    },
    {
      "rsid": "rs762551",
      "gene": "CYP1A2",
      "trait": "Fast caffeine metaboliser (*1F)",
      "sa_max_freq": 0.5756,
      "eur_freq": 0.6799,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "Likely benign",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs4988235",
      "gene": "MCM6/LCT",
      "trait": "Lactase persistence (tolerate dairy)",
      "sa_max_freq": 0.2604,
      "eur_freq": 0.508,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "association",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs671",
      "gene": "ALDH2",
      "trait": "Alcohol flush (East-Asian; contrast)",
      "sa_max_freq": 0.0,
      "eur_freq": 0.0,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.9019,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Pathogenic, Uncertain significance, drug response, protective, risk factor",
      "priority": 0.0,
      "sa_enriched": false
    },
    {
      "rsid": "rs1229984",
      "gene": "ADH1B",
      "trait": "Fast alcohol metaboliser",
      "sa_max_freq": 0.0417,
      "eur_freq": 0.0288,
      "alt": "A",
      "am_pred": "A",
      "am_score": 0.4381,
      "sift_pred": "D",
      "polyphen_pred": null,
      "clinvar": null,
      "priority": 0.0183,
      "sa_enriched": false
    },
    {
      "rsid": "rs1801133",
      "gene": "MTHFR",
      "trait": "Folate metabolism (C677T)",
      "sa_max_freq": 0.1505,
      "eur_freq": 0.3648,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.6345,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Conflicting interpretations of pathogenicity, Likely benign, Uncertain significance, Uncertain significance; association; other, drug response",
      "priority": 0.0955,
      "sa_enriched": false
    },
    {
      "rsid": "rs1815739",
      "gene": "ACTN3",
      "trait": "Endurance vs sprint muscle (R577X)",
      "sa_max_freq": 0.652,
      "eur_freq": 0.4344,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": true
    },
    {
      "rsid": "rs334",
      "gene": "HBB",
      "trait": "Sickle cell / HbS (note: 1000G S.Asian samples miss tribal India)",
      "sa_max_freq": 0.0,
      "eur_freq": 0.0,
      "alt": "A",
      "am_pred": "B",
      "am_score": 0.2271,
      "sift_pred": "D",
      "polyphen_pred": "B",
      "clinvar": "Pathogenic, not provided, other, protective",
      "priority": 0.0,
      "sa_enriched": false
    },
    {
      "rsid": "rs33930165",
      "gene": "HBB",
      "trait": "HbC / beta-globin variant",
      "sa_max_freq": 0.0,
      "eur_freq": 0.0,
      "alt": "T",
      "am_pred": "B",
      "am_score": 0.274,
      "sift_pred": "D",
      "polyphen_pred": "B",
      "clinvar": "Pathogenic, Pathogenic/Likely pathogenic, other, protective",
      "priority": 0.0,
      "sa_enriched": false
    },
    {
      "rsid": "rs4149056",
      "gene": "SLCO1B1",
      "trait": "Statin myopathy risk (reduced transport)",
      "sa_max_freq": 0.0637,
      "eur_freq": 0.161,
      "alt": "C",
      "am_pred": "P",
      "am_score": 0.6134,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Benign; other, Likely benign, Pathogenic, drug response",
      "priority": 0.0391,
      "sa_enriched": false
    },
    {
      "rsid": "rs776746",
      "gene": "CYP3A5*3",
      "trait": "Tacrolimus / immunosuppressant dosing",
      "sa_max_freq": 0.7233,
      "eur_freq": 0.9433,
      "alt": "T",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs1065852",
      "gene": "CYP2D6*10",
      "trait": "Reduced metaboliser (common in Asians)",
      "sa_max_freq": 0.2558,
      "eur_freq": 0.2018,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.7572,
      "sift_pred": "D",
      "polyphen_pred": null,
      "clinvar": "Likely benign, drug response, other",
      "priority": 0.1937,
      "sa_enriched": true
    },
    {
      "rsid": "rs1799853",
      "gene": "CYP2C9*2",
      "trait": "Warfarin sensitivity",
      "sa_max_freq": 0.0521,
      "eur_freq": 0.1243,
      "alt": "A",
      "am_pred": "A",
      "am_score": 0.5612,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": null,
      "priority": 0.0292,
      "sa_enriched": false
    },
    {
      "rsid": "rs3918290",
      "gene": "DPYD",
      "trait": "Fluoropyrimidine (5-FU) chemo toxicity",
      "sa_max_freq": 0.0147,
      "eur_freq": 0.005,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs12979860",
      "gene": "IFNL3/IL28B",
      "trait": "Hepatitis-C treatment response",
      "sa_max_freq": 0.25,
      "eur_freq": 0.3091,
      "alt": "T",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "Benign, drug response",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs2231142",
      "gene": "ABCG2",
      "trait": "Rosuvastatin levels / gout (Q141K)",
      "sa_max_freq": 0.1221,
      "eur_freq": 0.0944,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs10830963",
      "gene": "MTNR1B",
      "trait": "Fasting glucose / T2D (melatonin receptor — circadian)",
      "sa_max_freq": 0.4635,
      "eur_freq": 0.2883,
      "alt": "G",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": true
    },
    {
      "rsid": "rs2237892",
      "gene": "KCNQ1",
      "trait": "Type 2 diabetes (strong in East/South Asians)",
      "sa_max_freq": 1.0,
      "eur_freq": 0.9374,
      "alt": "T",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": true
    },
    {
      "rsid": "rs9939609",
      "gene": "FTO",
      "trait": "Obesity / BMI (classic FTO hit)",
      "sa_max_freq": 0.3382,
      "eur_freq": 0.4135,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs1421085",
      "gene": "FTO",
      "trait": "Adipocyte browning / obesity (causal FTO)",
      "sa_max_freq": 0.3529,
      "eur_freq": 0.4324,
      "alt": "C",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "risk factor",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs429358",
      "gene": "APOE",
      "trait": "Alzheimer's risk (APOE-e4 defining SNP)",
      "sa_max_freq": 0.1324,
      "eur_freq": 0.1551,
      "alt": "C",
      "am_pred": "B",
      "am_score": 0.0365,
      "sift_pred": "T",
      "polyphen_pred": "B",
      "clinvar": "Conflicting interpretations of pathogenicity; other; risk factor, Likely pathogenic, Pathogenic, Pathogenic/Established risk allele, Uncertain significance, association, drug response, not provided, risk factor",
      "priority": 0.0048,
      "sa_enriched": false
    },
    {
      "rsid": "rs7412",
      "gene": "APOE",
      "trait": "APOE-e2 (protective / lipid)",
      "sa_max_freq": 0.0523,
      "eur_freq": 0.0626,
      "alt": "T",
      "am_pred": "A",
      "am_score": 0.4222,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Likely benign; other; risk factor, Pathogenic, Uncertain significance, drug response, no classifications from unflagged records",
      "priority": 0.0221,
      "sa_enriched": false
    },
    {
      "rsid": "rs1061170",
      "gene": "CFH",
      "trait": "Age-related macular degeneration (Y402H)",
      "sa_max_freq": 0.3398,
      "eur_freq": 0.3618,
      "alt": "G",
      "am_pred": "B",
      "am_score": 0.1149,
      "sift_pred": "T",
      "polyphen_pred": "B",
      "clinvar": null,
      "priority": 0.039,
      "sa_enriched": false
    },
    {
      "rsid": "rs1800562",
      "gene": "HFE",
      "trait": "Hereditary haemochromatosis (C282Y)",
      "sa_max_freq": 0.0049,
      "eur_freq": 0.0427,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.9427,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Pathogenic, Pathogenic/Pathogenic, low penetrance, Pathogenic; other, no classifications from unflagged records, not provided, risk factor",
      "priority": 0.0046,
      "sa_enriched": false
    },
    {
      "rsid": "rs601338",
      "gene": "FUT2",
      "trait": "Secretor status / B12 / norovirus resistance",
      "sa_max_freq": 0.4271,
      "eur_freq": 0.4414,
      "alt": "A",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": "Benign, association, confers sensitivity",
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs4680",
      "gene": "COMT",
      "trait": "Dopamine breakdown (Val158Met 'warrior/worrier')",
      "sa_max_freq": 0.5208,
      "eur_freq": 0.5,
      "alt": "A",
      "am_pred": "B",
      "am_score": 0.127,
      "sift_pred": "T",
      "polyphen_pred": "B",
      "clinvar": "Benign, drug response",
      "priority": 0.0661,
      "sa_enriched": false
    },
    {
      "rsid": "rs6265",
      "gene": "BDNF",
      "trait": "Neuroplasticity (Val66Met)",
      "sa_max_freq": 0.2558,
      "eur_freq": 0.1968,
      "alt": "T",
      "am_pred": "B",
      "am_score": 0.2328,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Likely risk allele, not provided",
      "priority": 0.0596,
      "sa_enriched": true
    },
    {
      "rsid": "rs53576",
      "gene": "OXTR",
      "trait": "Oxytocin receptor (empathy / social)",
      "sa_max_freq": 0.6311,
      "eur_freq": 0.6491,
      "alt": "G",
      "am_pred": null,
      "am_score": null,
      "sift_pred": null,
      "polyphen_pred": null,
      "clinvar": null,
      "priority": null,
      "sa_enriched": false
    },
    {
      "rsid": "rs1800497",
      "gene": "ANKK1/DRD2",
      "trait": "Dopamine D2 reward signalling (Taq1A)",
      "sa_max_freq": 0.3922,
      "eur_freq": 0.1879,
      "alt": "A",
      "am_pred": "B",
      "am_score": 0.0528,
      "sift_pred": "T",
      "polyphen_pred": "B",
      "clinvar": "Benign, Likely benign",
      "priority": 0.0207,
      "sa_enriched": true
    },
    {
      "rsid": "rs17822931",
      "gene": "ABCC11",
      "trait": "Earwax type / body odour (East-Asian dry allele)",
      "sa_max_freq": 0.5637,
      "eur_freq": 0.1362,
      "alt": "T",
      "am_pred": "P",
      "am_score": 0.8248,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign",
      "priority": 0.4649,
      "sa_enriched": true
    },
    {
      "rsid": "rs1726866",
      "gene": "TAS2R38",
      "trait": "Bitter taste perception (PTC)",
      "sa_max_freq": 0.701,
      "eur_freq": 0.5388,
      "alt": "A",
      "am_pred": "B",
      "am_score": 0.1931,
      "sift_pred": "D",
      "polyphen_pred": "B",
      "clinvar": null,
      "priority": 0.1354,
      "sa_enriched": true
    },
    {
      "rsid": "rs1042713",
      "gene": "ADRB2",
      "trait": "Beta-agonist (asthma inhaler) response",
      "sa_max_freq": 0.4755,
      "eur_freq": 0.3857,
      "alt": "A",
      "am_pred": "B",
      "am_score": 0.0906,
      "sift_pred": "T",
      "polyphen_pred": "B",
      "clinvar": "drug response",
      "priority": 0.0431,
      "sa_enriched": true
    }
  ],
  "missense_count": 23,
  "flagged_nonbenign": [
    {
      "rsid": "rs1142345",
      "gene": "TPMT*3C",
      "trait": "Thiopurine toxicity",
      "sa_max_freq": 0.0291,
      "eur_freq": 0.0288,
      "alt": "G",
      "am_pred": "P",
      "am_score": 0.7457,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": null,
      "priority": 0.0217,
      "sa_enriched": false
    },
    {
      "rsid": "rs1050828",
      "gene": "G6PD",
      "trait": "G6PD deficiency (A-) — oxidant-drug haemolysis",
      "sa_max_freq": 0.0,
      "eur_freq": 0.0,
      "alt": "T",
      "am_pred": "A",
      "am_score": 0.4996,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Likely pathogenic, Likely pathogenic/Established risk allele, Pathogenic, Pathogenic/Likely pathogenic, Uncertain significance, other",
      "priority": 0.0,
      "sa_enriched": false
    },
    {
      "rsid": "rs671",
      "gene": "ALDH2",
      "trait": "Alcohol flush (East-Asian; contrast)",
      "sa_max_freq": 0.0,
      "eur_freq": 0.0,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.9019,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Pathogenic, Uncertain significance, drug response, protective, risk factor",
      "priority": 0.0,
      "sa_enriched": false
    },
    {
      "rsid": "rs1229984",
      "gene": "ADH1B",
      "trait": "Fast alcohol metaboliser",
      "sa_max_freq": 0.0417,
      "eur_freq": 0.0288,
      "alt": "A",
      "am_pred": "A",
      "am_score": 0.4381,
      "sift_pred": "D",
      "polyphen_pred": null,
      "clinvar": null,
      "priority": 0.0183,
      "sa_enriched": false
    },
    {
      "rsid": "rs1801133",
      "gene": "MTHFR",
      "trait": "Folate metabolism (C677T)",
      "sa_max_freq": 0.1505,
      "eur_freq": 0.3648,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.6345,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Conflicting interpretations of pathogenicity, Likely benign, Uncertain significance, Uncertain significance; association; other, drug response",
      "priority": 0.0955,
      "sa_enriched": false
    },
    {
      "rsid": "rs4149056",
      "gene": "SLCO1B1",
      "trait": "Statin myopathy risk (reduced transport)",
      "sa_max_freq": 0.0637,
      "eur_freq": 0.161,
      "alt": "C",
      "am_pred": "P",
      "am_score": 0.6134,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Benign; other, Likely benign, Pathogenic, drug response",
      "priority": 0.0391,
      "sa_enriched": false
    },
    {
      "rsid": "rs1065852",
      "gene": "CYP2D6*10",
      "trait": "Reduced metaboliser (common in Asians)",
      "sa_max_freq": 0.2558,
      "eur_freq": 0.2018,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.7572,
      "sift_pred": "D",
      "polyphen_pred": null,
      "clinvar": "Likely benign, drug response, other",
      "priority": 0.1937,
      "sa_enriched": true
    },
    {
      "rsid": "rs1799853",
      "gene": "CYP2C9*2",
      "trait": "Warfarin sensitivity",
      "sa_max_freq": 0.0521,
      "eur_freq": 0.1243,
      "alt": "A",
      "am_pred": "A",
      "am_score": 0.5612,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": null,
      "priority": 0.0292,
      "sa_enriched": false
    },
    {
      "rsid": "rs7412",
      "gene": "APOE",
      "trait": "APOE-e2 (protective / lipid)",
      "sa_max_freq": 0.0523,
      "eur_freq": 0.0626,
      "alt": "T",
      "am_pred": "A",
      "am_score": 0.4222,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Likely benign; other; risk factor, Pathogenic, Uncertain significance, drug response, no classifications from unflagged records",
      "priority": 0.0221,
      "sa_enriched": false
    },
    {
      "rsid": "rs1800562",
      "gene": "HFE",
      "trait": "Hereditary haemochromatosis (C282Y)",
      "sa_max_freq": 0.0049,
      "eur_freq": 0.0427,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.9427,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Pathogenic, Pathogenic/Pathogenic, low penetrance, Pathogenic; other, no classifications from unflagged records, not provided, risk factor",
      "priority": 0.0046,
      "sa_enriched": false
    },
    {
      "rsid": "rs17822931",
      "gene": "ABCC11",
      "trait": "Earwax type / body odour (East-Asian dry allele)",
      "sa_max_freq": 0.5637,
      "eur_freq": 0.1362,
      "alt": "T",
      "am_pred": "P",
      "am_score": 0.8248,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign",
      "priority": 0.4649,
      "sa_enriched": true
    }
  ],
  "top_priority": [
    {
      "rsid": "rs17822931",
      "gene": "ABCC11",
      "trait": "Earwax type / body odour (East-Asian dry allele)",
      "sa_max_freq": 0.5637,
      "eur_freq": 0.1362,
      "alt": "T",
      "am_pred": "P",
      "am_score": 0.8248,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign",
      "priority": 0.4649,
      "sa_enriched": true
    },
    {
      "rsid": "rs1065852",
      "gene": "CYP2D6*10",
      "trait": "Reduced metaboliser (common in Asians)",
      "sa_max_freq": 0.2558,
      "eur_freq": 0.2018,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.7572,
      "sift_pred": "D",
      "polyphen_pred": null,
      "clinvar": "Likely benign, drug response, other",
      "priority": 0.1937,
      "sa_enriched": true
    },
    {
      "rsid": "rs1726866",
      "gene": "TAS2R38",
      "trait": "Bitter taste perception (PTC)",
      "sa_max_freq": 0.701,
      "eur_freq": 0.5388,
      "alt": "A",
      "am_pred": "B",
      "am_score": 0.1931,
      "sift_pred": "D",
      "polyphen_pred": "B",
      "clinvar": null,
      "priority": 0.1354,
      "sa_enriched": true
    },
    {
      "rsid": "rs1801133",
      "gene": "MTHFR",
      "trait": "Folate metabolism (C677T)",
      "sa_max_freq": 0.1505,
      "eur_freq": 0.3648,
      "alt": "A",
      "am_pred": "P",
      "am_score": 0.6345,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Conflicting interpretations of pathogenicity, Likely benign, Uncertain significance, Uncertain significance; association; other, drug response",
      "priority": 0.0955,
      "sa_enriched": false
    },
    {
      "rsid": "rs4680",
      "gene": "COMT",
      "trait": "Dopamine breakdown (Val158Met 'warrior/worrier')",
      "sa_max_freq": 0.5208,
      "eur_freq": 0.5,
      "alt": "A",
      "am_pred": "B",
      "am_score": 0.127,
      "sift_pred": "T",
      "polyphen_pred": "B",
      "clinvar": "Benign, drug response",
      "priority": 0.0661,
      "sa_enriched": false
    },
    {
      "rsid": "rs6265",
      "gene": "BDNF",
      "trait": "Neuroplasticity (Val66Met)",
      "sa_max_freq": 0.2558,
      "eur_freq": 0.1968,
      "alt": "T",
      "am_pred": "B",
      "am_score": 0.2328,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Likely risk allele, not provided",
      "priority": 0.0596,
      "sa_enriched": true
    },
    {
      "rsid": "rs1042713",
      "gene": "ADRB2",
      "trait": "Beta-agonist (asthma inhaler) response",
      "sa_max_freq": 0.4755,
      "eur_freq": 0.3857,
      "alt": "A",
      "am_pred": "B",
      "am_score": 0.0906,
      "sift_pred": "T",
      "polyphen_pred": "B",
      "clinvar": "drug response",
      "priority": 0.0431,
      "sa_enriched": true
    },
    {
      "rsid": "rs4149056",
      "gene": "SLCO1B1",
      "trait": "Statin myopathy risk (reduced transport)",
      "sa_max_freq": 0.0637,
      "eur_freq": 0.161,
      "alt": "C",
      "am_pred": "P",
      "am_score": 0.6134,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": "Benign, Benign; other, Likely benign, Pathogenic, drug response",
      "priority": 0.0391,
      "sa_enriched": false
    },
    {
      "rsid": "rs1061170",
      "gene": "CFH",
      "trait": "Age-related macular degeneration (Y402H)",
      "sa_max_freq": 0.3398,
      "eur_freq": 0.3618,
      "alt": "G",
      "am_pred": "B",
      "am_score": 0.1149,
      "sift_pred": "T",
      "polyphen_pred": "B",
      "clinvar": null,
      "priority": 0.039,
      "sa_enriched": false
    },
    {
      "rsid": "rs1799853",
      "gene": "CYP2C9*2",
      "trait": "Warfarin sensitivity",
      "sa_max_freq": 0.0521,
      "eur_freq": 0.1243,
      "alt": "A",
      "am_pred": "A",
      "am_score": 0.5612,
      "sift_pred": "D",
      "polyphen_pred": "D",
      "clinvar": null,
      "priority": 0.0292,
      "sa_enriched": false
    }
  ]
}