{
  "note": "AlphaMissense-pathogenic missense variants OBSERVED in South Asians (gnomAD af_sas>0). European-absent + ClinVar-uncertain ones are the strongest research leads: India-relevant, computationally damaging, clinically unresolved.",
  "genes": {
    "Cardiomyopathy": [
      "MYBPC3",
      "MYH7",
      "TNNT2",
      "TNNI3",
      "LMNA"
    ],
    "Familial hypercholesterolemia": [
      "LDLR",
      "APOB",
      "PCSK9"
    ],
    "Hereditary cancer": [
      "BRCA1",
      "BRCA2",
      "TP53",
      "MLH1",
      "MSH2"
    ],
    "Monogenic diabetes (MODY)": [
      "HNF1A",
      "GCK",
      "HNF4A"
    ],
    "Cardiac channelopathy": [
      "KCNQ1",
      "KCNH2",
      "SCN5A"
    ],
    "Other high-burden (India)": [
      "GJB2",
      "ATP7B",
      "G6PD",
      "HBB"
    ]
  },
  "per_gene": {
    "MYBPC3": {
      "condition": "Cardiomyopathy",
      "observed_sas": 47,
      "total_reported": 47
    },
    "MYH7": {
      "condition": "Cardiomyopathy",
      "observed_sas": 68,
      "total_reported": 68
    },
    "TNNT2": {
      "condition": "Cardiomyopathy",
      "observed_sas": 10,
      "total_reported": 10
    },
    "TNNI3": {
      "condition": "Cardiomyopathy",
      "observed_sas": 7,
      "total_reported": 7
    },
    "LMNA": {
      "condition": "Cardiomyopathy",
      "observed_sas": 18,
      "total_reported": 18
    },
    "LDLR": {
      "condition": "Familial hypercholesterolemia",
      "observed_sas": 35,
      "total_reported": 35
    },
    "APOB": {
      "condition": "Familial hypercholesterolemia",
      "observed_sas": 36,
      "total_reported": 36
    },
    "PCSK9": {
      "condition": "Familial hypercholesterolemia",
      "observed_sas": 4,
      "total_reported": 4
    },
    "BRCA1": {
      "condition": "Hereditary cancer",
      "observed_sas": 14,
      "total_reported": 14
    },
    "BRCA2": {
      "condition": "Hereditary cancer",
      "observed_sas": 15,
      "total_reported": 15
    },
    "TP53": {
      "condition": "Hereditary cancer",
      "observed_sas": 6,
      "total_reported": 6
    },
    "MLH1": {
      "condition": "Hereditary cancer",
      "observed_sas": 27,
      "total_reported": 27
    },
    "MSH2": {
      "condition": "Hereditary cancer",
      "observed_sas": 46,
      "total_reported": 46
    },
    "HNF1A": {
      "condition": "Monogenic diabetes (MODY)",
      "observed_sas": 18,
      "total_reported": 18
    },
    "GCK": {
      "condition": "Monogenic diabetes (MODY)",
      "observed_sas": 8,
      "total_reported": 8
    },
    "HNF4A": {
      "condition": "Monogenic diabetes (MODY)",
      "observed_sas": 12,
      "total_reported": 12
    },
    "KCNQ1": {
      "condition": "Cardiac channelopathy",
      "observed_sas": 22,
      "total_reported": 22
    },
    "KCNH2": {
      "condition": "Cardiac channelopathy",
      "observed_sas": 28,
      "total_reported": 28
    },
    "SCN5A": {
      "condition": "Cardiac channelopathy",
      "observed_sas": 75,
      "total_reported": 75
    },
    "GJB2": {
      "condition": "Other high-burden (India)",
      "observed_sas": 19,
      "total_reported": 19
    },
    "ATP7B": {
      "condition": "Other high-burden (India)",
      "observed_sas": 75,
      "total_reported": 75
    },
    "G6PD": {
      "condition": "Other high-burden (India)",
      "observed_sas": 17,
      "total_reported": 17
    },
    "HBB": {
      "condition": "Other high-burden (India)",
      "observed_sas": 5,
      "total_reported": 5
    }
  },
  "total_observed": 612,
  "european_absent_count": 423,
  "understudied_count": 460,
  "leads_count": 327,
  "top": [
    {
      "gene": "MYBPC3",
      "condition": "Cardiomyopathy",
      "id": "chr11:g.47371598C>T",
      "rsid": "rs3729986",
      "protein": "p.V158M",
      "af_sas": 0.0337197,
      "af_nfe": 0.0937631,
      "am_score": 0.8081,
      "clinvar": "Benign",
      "european_absent": false,
      "understudied": false,
      "priority": 272.4889
    },
    {
      "gene": "APOB",
      "condition": "Familial hypercholesterolemia",
      "id": "chr2:g.21233972T>C",
      "rsid": "rs533617",
      "protein": "p.His1923Arg",
      "af_sas": 0.0371423,
      "af_nfe": 0.0389205,
      "am_score": 0.7129,
      "clinvar": "Benign, Benign/Likely benign, Likely benign",
      "european_absent": false,
      "understudied": false,
      "priority": 264.7875
    },
    {
      "gene": "G6PD",
      "condition": "Other high-burden (India)",
      "id": "chrX:g.153762634G>A",
      "rsid": "rs5030868",
      "protein": "p.Ser218Phe",
      "af_sas": 0.0173498,
      "af_nfe": 0.000770011,
      "am_score": 0.6258,
      "clinvar": "Likely pathogenic, Pathogenic, Pathogenic/Likely pathogenic, Uncertain significance, other",
      "european_absent": false,
      "understudied": false,
      "priority": 108.575
    },
    {
      "gene": "G6PD",
      "condition": "Other high-burden (India)",
      "id": "chrX:g.153763391C>G",
      "rsid": "rs370918918",
      "protein": "p.Met159Ile",
      "af_sas": 0.00870067,
      "af_nfe": 6.12482e-05,
      "am_score": 0.6601,
      "clinvar": "Conflicting interpretations of pathogenicity",
      "european_absent": false,
      "understudied": true,
      "priority": 86.1497
    },
    {
      "gene": "MSH2",
      "condition": "Hereditary cancer",
      "id": "chr2:g.47630397T>C",
      "rsid": "rs372619120",
      "protein": "p.F23L",
      "af_sas": 0.00480596,
      "af_nfe": 1.01223e-05,
      "am_score": 0.8119,
      "clinvar": "Benign, Benign/Likely benign, Conflicting interpretations of pathogenicity, Likely benign",
      "european_absent": false,
      "understudied": true,
      "priority": 58.5294
    },
    {
      "gene": "MSH2",
      "condition": "Hereditary cancer",
      "id": "chr2:g.47703620G>A",
      "rsid": "rs373226409",
      "protein": "p.C707Y",
      "af_sas": 0.00326627,
      "af_nfe": 6.15352e-05,
      "am_score": 0.8187,
      "clinvar": "Benign, Conflicting interpretations of pathogenicity, Likely benign, Uncertain significance",
      "european_absent": false,
      "understudied": true,
      "priority": 40.1114
    },
    {
      "gene": "ATP7B",
      "condition": "Other high-burden (India)",
      "id": "chr13:g.52534410C>T",
      "rsid": "rs72552259",
      "protein": "p.M554I",
      "af_sas": 0.00202641,
      "af_nfe": 0.00173516,
      "am_score": 0.7837,
      "clinvar": "Conflicting interpretations of pathogenicity, Uncertain significance",
      "european_absent": false,
      "understudied": true,
      "priority": 23.8215
    },
    {
      "gene": "G6PD",
      "condition": "Other high-burden (India)",
      "id": "chrX:g.153764383G>C",
      "rsid": "rs78478128",
      "protein": "p.A44G",
      "af_sas": 0.00162508,
      "af_nfe": 0.0,
      "am_score": 0.783,
      "clinvar": "Likely pathogenic, Pathogenic, other",
      "european_absent": true,
      "understudied": false,
      "priority": 19.0866
    },
    {
      "gene": "G6PD",
      "condition": "Other high-burden (India)",
      "id": "chrX:g.153764155G>C",
      "rsid": "rs781794862",
      "protein": "p.Phe88Leu",
      "af_sas": 0.00131884,
      "af_nfe": 0.0,
      "am_score": 0.8029,
      "clinvar": "Likely benign",
      "european_absent": true,
      "understudied": false,
      "priority": 15.8834
    },
    {
      "gene": "SCN5A",
      "condition": "Cardiac channelopathy",
      "id": "chr3:g.38627472C>T",
      "rsid": "rs45475899",
      "protein": "p.Gly833Arg",
      "af_sas": 0.00101254,
      "af_nfe": 3.52429e-05,
      "am_score": 0.9617,
      "clinvar": "Conflicting interpretations of pathogenicity, Uncertain significance",
      "european_absent": false,
      "understudied": true,
      "priority": 14.6064
    },
    {
      "gene": "MLH1",
      "condition": "Hereditary cancer",
      "id": "chr3:g.37061893T>C",
      "rsid": "rs63751049",
      "protein": "p.Val228Ala",
      "af_sas": 0.0011106,
      "af_nfe": 0.000606935,
      "am_score": 0.783,
      "clinvar": "Benign, Benign/Likely benign, Likely benign, Uncertain significance",
      "european_absent": false,
      "understudied": true,
      "priority": 13.044
    },
    {
      "gene": "LMNA",
      "condition": "Cardiomyopathy",
      "id": "chr1:g.156104252T>G",
      "rsid": "rs752087253",
      "protein": "p.Val191Gly",
      "af_sas": 0.00113629,
      "af_nfe": 0.00381615,
      "am_score": 0.9651,
      "clinvar": "Benign",
      "european_absent": false,
      "understudied": false,
      "priority": 10.9663
    },
    {
      "gene": "APOB",
      "condition": "Familial hypercholesterolemia",
      "id": "chr2:g.21235154C>T",
      "rsid": "rs558304720",
      "protein": "p.G1529D",
      "af_sas": 0.000751536,
      "af_nfe": 0.0,
      "am_score": 0.7126,
      "clinvar": "Benign, Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 10.7109
    },
    {
      "gene": "GJB2",
      "condition": "Other high-burden (India)",
      "id": "chr13:g.20763136C>G",
      "rsid": "rs570552952",
      "protein": "p.M195I",
      "af_sas": 0.000653339,
      "af_nfe": 8.79894e-06,
      "am_score": 0.9955,
      "clinvar": "Conflicting interpretations of pathogenicity, Likely pathogenic, Uncertain significance",
      "european_absent": false,
      "understudied": true,
      "priority": 9.756
    },
    {
      "gene": "KCNQ1",
      "condition": "Cardiac channelopathy",
      "id": "chr11:g.2606518C>T",
      "rsid": "rs775362401",
      "protein": "p.A370V",
      "af_sas": 0.00111053,
      "af_nfe": 4.40327e-05,
      "am_score": 0.8162,
      "clinvar": "Benign, Likely pathogenic, Uncertain significance",
      "european_absent": false,
      "understudied": false,
      "priority": 9.0641
    },
    {
      "gene": "SCN5A",
      "condition": "Cardiac channelopathy",
      "id": "chr3:g.38592212G>A",
      "rsid": "rs755162776",
      "protein": "p.Pro1884Leu",
      "af_sas": 0.000555519,
      "af_nfe": 0.0,
      "am_score": 0.8037,
      "clinvar": "Likely benign, Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 8.9294
    },
    {
      "gene": "HBB",
      "condition": "Other high-burden (India)",
      "id": "chr11:g.5248173C>T",
      "rsid": "rs33950507",
      "protein": "p.E27K",
      "af_sas": 0.00114319,
      "af_nfe": 8.79817e-06,
      "am_score": 0.6732,
      "clinvar": "Pathogenic, not provided, other, protective",
      "european_absent": false,
      "understudied": false,
      "priority": 7.696
    },
    {
      "gene": "SCN5A",
      "condition": "Cardiac channelopathy",
      "id": "chr3:g.38655290G>A",
      "rsid": "rs41276525",
      "protein": "p.Ser216Leu",
      "af_sas": 0.000574441,
      "af_nfe": 0.00103097,
      "am_score": 0.8865,
      "clinvar": "Conflicting interpretations of pathogenicity, Likely benign, Uncertain significance",
      "european_absent": false,
      "understudied": true,
      "priority": 7.6386
    },
    {
      "gene": "HBB",
      "condition": "Other high-burden (India)",
      "id": "chr11:g.5248160C>G",
      "rsid": "rs33960103",
      "protein": "p.R31T",
      "af_sas": 0.000783955,
      "af_nfe": 1.75948e-05,
      "am_score": 0.9444,
      "clinvar": "Pathogenic",
      "european_absent": false,
      "understudied": false,
      "priority": 7.4037
    },
    {
      "gene": "KCNH2",
      "condition": "Cardiac channelopathy",
      "id": "chr7:g.150671950G>C",
      "rsid": "rs754921704",
      "protein": "p.C52W",
      "af_sas": 0.00036366,
      "af_nfe": 0.0,
      "am_score": 0.9751,
      "clinvar": "Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 7.0921
    },
    {
      "gene": "MYH7",
      "condition": "Cardiomyopathy",
      "id": "chr14:g.23892910A>G",
      "rsid": "rs145532615",
      "protein": "p.M982T",
      "af_sas": 0.000653253,
      "af_nfe": 0.00141519,
      "am_score": 0.7052,
      "clinvar": "Benign, Benign/Likely benign, Conflicting interpretations of pathogenicity, Likely benign",
      "european_absent": false,
      "understudied": true,
      "priority": 6.9101
    },
    {
      "gene": "TNNI3",
      "condition": "Cardiomyopathy",
      "id": "chr19:g.55668029G>T",
      "rsid": "rs139150276",
      "protein": "p.S6Y",
      "af_sas": 0.000714646,
      "af_nfe": 0.0,
      "am_score": 0.5711,
      "clinvar": "Benign",
      "european_absent": true,
      "understudied": false,
      "priority": 6.122
    },
    {
      "gene": "LDLR",
      "condition": "Familial hypercholesterolemia",
      "id": "chr19:g.11221366C>T",
      "rsid": "rs747507019",
      "protein": "p.His286Tyr",
      "af_sas": 0.000490036,
      "af_nfe": 0.0,
      "am_score": 0.6186,
      "clinvar": "Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 6.0627
    },
    {
      "gene": "ATP7B",
      "condition": "Other high-burden (India)",
      "id": "chr13:g.52518306C>T",
      "rsid": "rs764131178",
      "protein": "p.Gly854Glu",
      "af_sas": 0.000392131,
      "af_nfe": 0.0,
      "am_score": 0.9943,
      "clinvar": "Pathogenic",
      "european_absent": true,
      "understudied": false,
      "priority": 5.8484
    },
    {
      "gene": "MSH2",
      "condition": "Hereditary cancer",
      "id": "chr2:g.47637257T>G",
      "rsid": "rs755423698",
      "protein": "p.Phe131Val",
      "af_sas": 0.000424642,
      "af_nfe": 0.0,
      "am_score": 0.6794,
      "clinvar": "Benign, Conflicting interpretations of pathogenicity, Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 5.77
    },
    {
      "gene": "ATP7B",
      "condition": "Other high-burden (India)",
      "id": "chr13:g.52524246G>C",
      "rsid": "rs563353745",
      "protein": "p.Ser765Cys",
      "af_sas": 0.000392131,
      "af_nfe": 0.0,
      "am_score": 0.7345,
      "clinvar": "Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 5.7604
    },
    {
      "gene": "MYH7",
      "condition": "Cardiomyopathy",
      "id": "chr14:g.23893148C>G",
      "rsid": "rs45496496",
      "protein": "p.V964L",
      "af_sas": 0.000424615,
      "af_nfe": 0.000826243,
      "am_score": 0.893,
      "clinvar": "Conflicting interpretations of pathogenicity, Likely benign, Uncertain significance",
      "european_absent": false,
      "understudied": true,
      "priority": 5.6877
    },
    {
      "gene": "MLH1",
      "condition": "Hereditary cancer",
      "id": "chr3:g.37089048A>C",
      "rsid": "rs769239969",
      "protein": "p.Leu492Phe",
      "af_sas": 0.000293964,
      "af_nfe": 0.0,
      "am_score": 0.9055,
      "clinvar": "Conflicting interpretations of pathogenicity, Likely benign, Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 5.3237
    },
    {
      "gene": "G6PD",
      "condition": "Other high-burden (India)",
      "id": "chrX:g.153761811C>G",
      "rsid": "rs137852318",
      "protein": "p.D312H",
      "af_sas": 0.000733906,
      "af_nfe": 0.00112541,
      "am_score": 0.6841,
      "clinvar": "Pathogenic, other",
      "european_absent": false,
      "understudied": false,
      "priority": 5.0207
    },
    {
      "gene": "KCNQ1",
      "condition": "Cardiac channelopathy",
      "id": "chr11:g.2593278A>G",
      "rsid": "rs533669726",
      "protein": "p.His153Arg",
      "af_sas": 0.000261523,
      "af_nfe": 0.0,
      "am_score": 0.9492,
      "clinvar": "Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 4.9648
    },
    {
      "gene": "BRCA2",
      "condition": "Hereditary cancer",
      "id": "chr13:g.32913077G>A",
      "rsid": "rs28897728",
      "protein": "p.Gly1529Arg",
      "af_sas": 0.000458115,
      "af_nfe": 0.00063611,
      "am_score": 0.7028,
      "clinvar": "Benign, Benign/Likely benign, Conflicting interpretations of pathogenicity, Likely benign",
      "european_absent": false,
      "understudied": true,
      "priority": 4.8294
    },
    {
      "gene": "KCNH2",
      "condition": "Cardiac channelopathy",
      "id": "chr7:g.150655225G>A",
      "rsid": "rs781669869",
      "protein": "p.R280C",
      "af_sas": 0.000419111,
      "af_nfe": 0.000208247,
      "am_score": 0.7432,
      "clinvar": "Uncertain significance",
      "european_absent": false,
      "understudied": true,
      "priority": 4.6722
    },
    {
      "gene": "ATP7B",
      "condition": "Other high-burden (India)",
      "id": "chr13:g.52544669G>A",
      "rsid": "rs767017514",
      "protein": "p.S501F",
      "af_sas": 0.000261421,
      "af_nfe": 0.0,
      "am_score": 0.8733,
      "clinvar": "Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 4.566
    },
    {
      "gene": "GJB2",
      "condition": "Other high-burden (India)",
      "id": "chr13:g.20763221A>C",
      "rsid": "rs201983374",
      "protein": "p.Val167Gly",
      "af_sas": 0.000394063,
      "af_nfe": 0.00317851,
      "am_score": 0.7533,
      "clinvar": null,
      "european_absent": false,
      "understudied": true,
      "priority": 4.4527
    },
    {
      "gene": "MYH7",
      "condition": "Cardiomyopathy",
      "id": "chr14:g.23894232C>A",
      "rsid": "rs397516147",
      "protein": "p.D809Y",
      "af_sas": 0.000326648,
      "af_nfe": 0.0,
      "am_score": 0.6742,
      "clinvar": "Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 4.4045
    },
    {
      "gene": "ATP7B",
      "condition": "Other high-burden (India)",
      "id": "chr13:g.52511620G>A",
      "rsid": "rs749472361",
      "protein": "p.Leu1188Phe",
      "af_sas": 0.000294098,
      "af_nfe": 0.0,
      "am_score": 0.8589,
      "clinvar": "Pathogenic, Pathogenic/Likely pathogenic",
      "european_absent": true,
      "understudied": false,
      "priority": 3.789
    },
    {
      "gene": "TNNI3",
      "condition": "Cardiomyopathy",
      "id": "chr19:g.55665508C>G",
      "rsid": "rs777782551",
      "protein": "p.Val122Leu",
      "af_sas": 0.000196066,
      "af_nfe": 0.0,
      "am_score": 0.9633,
      "clinvar": "Uncertain significance",
      "european_absent": true,
      "understudied": true,
      "priority": 3.7774
    },
    {
      "gene": "G6PD",
      "condition": "Other high-burden (India)",
      "id": "chrX:g.153762710C>T",
      "rsid": "rs137852314",
      "protein": "p.G163S",
      "af_sas": 0.000366934,
      "af_nfe": 0.0,
      "am_score": 0.6817,
      "clinvar": "Pathogenic, Pathogenic/Likely pathogenic, other",
      "european_absent": true,
      "understudied": false,
      "priority": 3.7521
    },
    {
      "gene": "ATP7B",
      "condition": "Other high-burden (India)",
      "id": "chr13:g.52548481A>G",
      "rsid": "rs764985395",
      "protein": "p.Leu292Ser",
      "af_sas": 0.000228908,
      "af_nfe": 0.0,
      "am_score": 0.8095,
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}