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How to find studies and lead variants assigned by L2G

This tutorial illustrates how you can find all studies from the GWAS Catalog or UK Biobank plus all lead variants assigned to your gene of interest (ENSG00000158158) as a result of the locus-to-gene score (L2G) pipeline.
Use the studiesAndLeadVariantsForGeneByL2Gquery:
  {
  studiesAndLeadVariantsForGeneByL2G(geneId: "ENSG00000158158") {
    variant {
      id
      rsId
    }
    study {
      studyId
      traitReported
    }
  }
}
Response
{
  "data": {
    "studiesAndLeadVariantsForGeneByL2G": [
      {
        "variant": {
          "id": "2_97032743_A_C",
          "rsId": "rs13005320"
        },
        "study": {
          "studyId": "NEALE2_30150",
          "traitReported": "Eosinophill count"
        }
      },
      {
        "variant": {
          "id": "2_96535945_G_A",
          "rsId": "rs2579500"
        },
        "study": {
          "studyId": "GCST007065",
          "traitReported": "Eosinophil counts"
        }
      },
      {
        "variant": {
          "id": "2_96989603_A_G",
          "rsId": "rs148947061"
        },
        "study": {
          "studyId": "NEALE2_5375_raw",
          "traitReported": "Longest period of unenthusiasm / disinterest"
        }
      },
      {
        "variant": {
          "id": "2_96941334_A_G",
          "rsId": "rs6728642"
        },
        "study": {
          "studyId": "GCST005081",
          "traitReported": "Bipolar disorder lithium response (continuous) or schizophrenia"
        }
      },
      {
        "variant": {
          "id": "2_96535945_G_A",
          "rsId": "rs2579500"
        },
        "study": {
          "studyId": "NEALE2_30210_raw",
          "traitReported": "Eosinophill percentage"
        }
      },
      {
        "variant": {
          "id": "2_96502225_T_C",
          "rsId": "rs2579505"
        },
        "study": {
          "studyId": "NEALE2_30150",
          "traitReported": "Eosinophill count"
        }
      },
      {
        "variant": {
          "id": "2_96388214_TTAGA_T",
          "rsId": "rs35205062"
        },
        "study": {
          "studyId": "NEALE2_30150",
          "traitReported": "Eosinophill count"
        }
      },
      {
        "variant": {
          "id": "2_96535945_G_A",
          "rsId": "rs2579500"
        },
        "study": {
          "studyId": "GCST004600",
          "traitReported": "Eosinophil percentage of white cells"
        }
      },
      {
        "variant": {
          "id": "2_96535945_G_A",
          "rsId": "rs2579500"
        },
        "study": {
          "studyId": "GCST004606",
          "traitReported": "Eosinophil counts"
        }
      },
      {
        "variant": {
          "id": "2_96916498_A_T",
          "rsId": "rs13018621"
        },
        "study": {
          "studyId": "NEALE2_6138_1",
          "traitReported": "College or university degree | qualifications"
        }
      },
      {
        "variant": {
          "id": "2_96564337_G_A",
          "rsId": "rs2708977"
        },
        "study": {
          "studyId": "GCST004623",
          "traitReported": "Neutrophil percentage of granulocytes"
        }
      },
      {
        "variant": {
          "id": "2_96564337_G_A",
          "rsId": "rs2708977"
        },
        "study": {
          "studyId": "GCST004617",
          "traitReported": "Eosinophil percentage of granulocytes"
        }
      },
      {
        "variant": {
          "id": "2_96535945_G_A",
          "rsId": "rs2579500"
        },
        "study": {
          "studyId": "GCST004624",
          "traitReported": "Sum eosinophil basophil counts"
        }
      },
      {
        "variant": {
          "id": "2_96663115_C_T",
          "rsId": "rs17634791"
        },
        "study": {
          "studyId": "NEALE2_30180_raw",
          "traitReported": "Lymphocyte percentage"
        }
      },
      {
        "variant": {
          "id": "2_96835038_A_G",
          "rsId": "rs78381888"
        },
        "study": {
          "studyId": "GCST006568",
          "traitReported": "Highest math class taken (MTAG) [MTAG]"
        }
      },
      {
        "variant": {
          "id": "2_96835038_A_G",
          "rsId": "rs78381888"
        },
        "study": {
          "studyId": "GCST006569",
          "traitReported": "Self-reported math ability (MTAG) [MTAG]"
        }
      },
      {
        "variant": {
          "id": "2_96835038_A_G",
          "rsId": "rs78381888"
        },
        "study": {
          "studyId": "GCST006573",
          "traitReported": "Self-reported math ability"
        }
      },
      {
        "variant": {
          "id": "2_96297946_A_G",
          "rsId": "rs772178"
        },
        "study": {
          "studyId": "GCST006258",
          "traitReported": "Diastolic blood pressure"
        }
      },
      {
        "variant": {
          "id": "2_96617939_T_C",
          "rsId": "rs183743021"
        },
        "study": {
          "studyId": "NEALE2_3062_raw",
          "traitReported": "Forced vital capacity (fvc)"
        }
      },
      {
        "variant": {
          "id": "2_96479597_T_TTG",
          "rsId": "rs113359549"
        },
        "study": {
          "studyId": "GCST004606",
          "traitReported": "Eosinophil counts"
        }
      },
      {
        "variant": {
          "id": "2_96739703_G_A",
          "rsId": "rs2271893"
        },
        "study": {
          "studyId": "GCST006585_941",
          "traitReported": "Blood protein levels [LMAN2L]"
        }
      },
      {
        "variant": {
          "id": "2_96752905_T_G",
          "rsId": "rs189255944"
        },
        "study": {
          "studyId": "NEALE2_50_raw",
          "traitReported": "Standing height"
        }
      },
      {
        "variant": {
          "id": "2_96686103_A_G",
          "rsId": "rs7599598"
        },
        "study": {
          "studyId": "GCST006166_6",
          "traitReported": "Diastolic blood pressure x alcohol consumption interaction (2df test) [Asian, EA]"
        }
      },
      {
        "variant": {
          "id": "2_96686103_A_G",
          "rsId": "rs7599598"
        },
        "study": {
          "studyId": "GCST006190",
          "traitReported": "Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)"
        }
      },
      {
        "variant": {
          "id": "2_96686103_A_G",
          "rsId": "rs7599598"
        },
        "study": {
          "studyId": "GCST006190_3",
          "traitReported": "Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) [EA]"
        }
      },
      {
        "variant": {
          "id": "2_96686103_A_G",
          "rsId": "rs7599598"
        },
        "study": {
          "studyId": "GCST006193_3",
          "traitReported": "Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) [EA]"
        }
      },
      {
        "variant": {
          "id": "2_96686103_A_G",
          "rsId": "rs7599598"
        },
        "study": {
          "studyId": "GCST006166_8",
          "traitReported": "Diastolic blood pressure x alcohol consumption interaction (2df test) [EA]"
        }
      },
      {
        "variant": {
          "id": "2_96686103_A_G",
          "rsId": "rs7599598"
        },
        "study": {
          "studyId": "GCST006193",
          "traitReported": "Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)"
        }
      },
      {
        "variant": {
          "id": "2_97131943_T_C",
          "rsId": "rs13390019"
        },
        "study": {
          "studyId": "GCST008757",
          "traitReported": "Alcohol consumption"
        }
      },
      {
        "variant": {
          "id": "2_96510897_C_T",
          "rsId": "rs2579503"
        },
        "study": {
          "studyId": "GCST007269",
          "traitReported": "Pulse pressure"
        }
      },
      {
        "variant": {
          "id": "2_96377542_G_GT",
          "rsId": "rs561539268"
        },
        "study": {
          "studyId": "NEALE2_1687",
          "traitReported": "Comparative body size at age 10"
        }
      },
      {
        "variant": {
          "id": "2_96381261_G_A",
          "rsId": "rs1081707"
        },
        "study": {
          "studyId": "GCST007268",
          "traitReported": "Diastolic blood pressure"
        }
      },
      {
        "variant": {
          "id": "2_96506388_G_A",
          "rsId": "rs1866444"
        },
        "study": {
          "studyId": "GCST008413",
          "traitReported": "Core binding factor acute myeloid leukemia"
        }
      },
      {
        "variant": {
          "id": "2_96858148_G_A",
          "rsId": "rs79460537"
        },
        "study": {
          "studyId": "GCST008839",
          "traitReported": "Height"
        }
      },
      {
        "variant": {
          "id": "2_96617939_T_C",
          "rsId": "rs183743021"
        },
        "study": {
          "studyId": "NEALE2_20153_raw",
          "traitReported": "Forced expiratory volume in 1-second (fev1), predicted"
        }
      },
      {
        "variant": {
          "id": "2_96617939_T_C",
          "rsId": "rs183743021"
        },
        "study": {
          "studyId": "NEALE2_20015_raw",
          "traitReported": "Sitting height"
        }
      },
      {
        "variant": {
          "id": "2_96752905_T_G",
          "rsId": "rs189255944"
        },
        "study": {
          "studyId": "NEALE2_20151_raw",
          "traitReported": "Forced vital capacity (fvc), best measure"
        }
      },
      {
        "variant": {
          "id": "2_96900314_C_T",
          "rsId": "rs114707893"
        },
        "study": {
          "studyId": "NEALE2_1697",
          "traitReported": "Comparative height size at age 10"
        }
      },
      {
        "variant": {
          "id": "2_96710670_A_AT",
          "rsId": "rs57195239"
        },
        "study": {
          "studyId": "GCST008103",
          "traitReported": "Bipolar disorder"
        }
      },
      {
        "variant": {
          "id": "2_96739703_G_A",
          "rsId": "rs2271893"
        },
        "study": {
          "studyId": "GCST001358",
          "traitReported": "Bipolar disorder"
        }
      },
      {
        "variant": {
          "id": "2_96714492_T_G",
          "rsId": "rs56361249"
        },
        "study": {
          "studyId": "GCST003962",
          "traitReported": "Bipolar disorder"
        }
      }
    ]
  }
}
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Last updated 7 months ago