{
  "url": "https://dantelabs.com/da/genes/vdr",
  "gene": {
    "slug": "vdr",
    "symbol": "VDR",
    "name": "vitamin D receptor",
    "hgnc": "HGNC:12679",
    "summary": null,
    "location": "12q13.11",
    "locusType": "gene with protein product",
    "aliases": [
      "NR1I1",
      "PPP1R163"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000111424",
    "entrezId": 7421,
    "omim": [
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    "uniprot": [
      "P11473"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 47841537,
      "end": 47904994,
      "strand": "-",
      "ensemblTranscript": "ENST00000549336.6",
      "refseqTranscript": "NM_000376.3",
      "ensemblProtein": "ENSP00000449573.2",
      "refseqProtein": "NP_000367.1",
      "exons": [
        {
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        {
          "start": 47846335,
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          "end": 47882774
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      ],
      "cds": {
        "start": 47844746,
        "end": 47879113
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
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      "end": 48336831,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47373266,
      "end": 48373265,
      "genes": [
        {
          "symbol": "RPAP3",
          "ensemblId": "ENSG00000005175",
          "biotype": "protein_coding",
          "start": 47660814,
          "end": 47706038,
          "strand": "-",
          "slug": "rpap3"
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        {
          "symbol": "ENDOU",
          "ensemblId": "ENSG00000111405",
          "biotype": "protein_coding",
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          "end": 47725567,
          "strand": "-",
          "slug": "endou"
        },
        {
          "symbol": "RAPGEF3",
          "ensemblId": "ENSG00000079337",
          "biotype": "protein_coding",
          "start": 47734180,
          "end": 47771040,
          "strand": "-",
          "slug": "rapgef3"
        },
        {
          "symbol": "SLC48A1",
          "ensemblId": "ENSG00000211584",
          "biotype": "protein_coding",
          "start": 47753916,
          "end": 47782751,
          "strand": "+",
          "slug": "slc48a1"
        },
        {
          "symbol": "HDAC7",
          "ensemblId": "ENSG00000061273",
          "biotype": "protein_coding",
          "start": 47782722,
          "end": 47833132,
          "strand": "-",
          "slug": "hdac7"
        },
        {
          "symbol": "TMEM106C",
          "ensemblId": "ENSG00000134291",
          "biotype": "protein_coding",
          "start": 47963543,
          "end": 47970504,
          "strand": "+",
          "slug": "tmem106c"
        },
        {
          "symbol": "COL2A1",
          "ensemblId": "ENSG00000139219",
          "biotype": "protein_coding",
          "start": 47972967,
          "end": 48004689,
          "strand": "-",
          "slug": "col2a1"
        },
        {
          "symbol": "SENP1",
          "ensemblId": "ENSG00000079387",
          "biotype": "protein_coding",
          "start": 48039784,
          "end": 48106316,
          "strand": "-",
          "slug": "senp1"
        },
        {
          "symbol": "PFKM",
          "ensemblId": "ENSG00000152556",
          "biotype": "protein_coding",
          "start": 48105139,
          "end": 48152487,
          "strand": "+",
          "slug": "pfkm"
        },
        {
          "symbol": "ASB8",
          "ensemblId": "ENSG00000177981",
          "biotype": "protein_coding",
          "start": 48147789,
          "end": 48181213,
          "strand": "-",
          "slug": "asb8"
        },
        {
          "symbol": "CCDC184",
          "ensemblId": "ENSG00000177875",
          "biotype": "protein_coding",
          "start": 48183644,
          "end": 48185926,
          "strand": "+",
          "slug": "ccdc184"
        },
        {
          "symbol": "OR10AD1",
          "ensemblId": "ENSG00000172640",
          "biotype": "protein_coding",
          "start": 48202339,
          "end": 48203292,
          "strand": "-",
          "slug": "or10ad1"
        },
        {
          "symbol": "H1-7",
          "ensemblId": "ENSG00000187166",
          "biotype": "protein_coding",
          "start": 48328980,
          "end": 48330279,
          "strand": "+",
          "slug": "h1-7"
        },
        {
          "symbol": "ZNF641",
          "ensemblId": "ENSG00000167528",
          "biotype": "protein_coding",
          "start": 48337180,
          "end": 48351414,
          "strand": "-",
          "slug": "znf641"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-rickets",
        "name": "Arvelig rakitis (hypofosfatæmisk og D-vitaminafhængig)",
        "diseases": [
          {
            "mondoId": "MONDO:0024299",
            "name": "D-vitaminafhængig rakitis",
            "genes": 3,
            "inheritance": null,
            "description": "Arvelige defekter i aktiveringen af D-vitamin (CYP27B1, CYP2R1) eller i D-vitaminreceptoren (VDR), som forårsager rakitis i den tidlige barndom på trods af tilstrækkeligt indtag af D-vitamin.",
            "management": "De fleste typer reagerer godt på calcitriol, højdosis D-vitamin eller højdosis calcium, afhængigt af typen.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/hereditary-rickets"
      }
    ],
    "pharmacogenomics": [],
    "traits": [
      {
        "slug": "nutrigenetics",
        "traits": [
          {
            "key": "vitamin-d-response",
            "title": "D-vitaminrespons"
          }
        ],
        "name": "Nutrigenetik",
        "url": "https://dantelabs.com/da/whole-genome-sequencing/nutrigenetics"
      }
    ],
    "phenotypes": [
      {
        "slug": "abdominal-wall-muscle-weakness",
        "name": "Abdominal wall muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abdominal-wall-muscle-weakness"
      },
      {
        "slug": "abnormal-bone-structure",
        "name": "Abnormal bone structure",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-bone-structure"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormal-adipose-tissue-morphology",
        "name": "Abnormality of adipose tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-adipose-tissue-morphology"
      },
      {
        "slug": "abnormal-thorax-morphology",
        "name": "Abnormality of the chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-thorax-morphology"
      },
      {
        "slug": "abnormal-hip-bone-morphology",
        "name": "Abnormality of the hip bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hip-bone-morphology"
      },
      {
        "slug": "abnormality-of-the-skin",
        "name": "Abnormality of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skin"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "alopecia-universalis",
        "name": "Alopecia universalis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alopecia-universalis"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "bone-cyst",
        "name": "Bone cyst",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-cyst"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "fibular-bowing",
        "name": "Bowed calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/fibular-bowing"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "tibial-bowing",
        "name": "Bowed shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/tibial-bowing"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "bulging-epiphyses",
        "name": "Bulging end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bulging-epiphyses"
      },
      {
        "slug": "bulging-of-the-costochondral-junction",
        "name": "Bulging of the costochondral junction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bulging-of-the-costochondral-junction"
      },
      {
        "slug": "coarse-metaphyseal-trabecularization",
        "name": "Coarse metaphyseal trabecularization",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarse-metaphyseal-trabecularization"
      },
      {
        "slug": "deformed-rib-cage",
        "name": "Deformed rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/deformed-rib-cage"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "delayed-epiphyseal-ossification",
        "name": "Delayed maturation of end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "difficulty-standing",
        "name": "Difficulty in standing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/difficulty-standing"
      },
      {
        "slug": "premature-loss-of-primary-teeth",
        "name": "Early loss of baby teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-loss-of-primary-teeth"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "hyperparathyroidism",
        "name": "Elevated blood parathyroid hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperparathyroidism"
      },
      {
        "slug": "elevated-circulating-calcitriol-concentration",
        "name": "Elevated circulating calcitriol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-calcitriol-concentration"
      },
      {
        "slug": "elevated-circulating-parathyroid-hormone-level",
        "name": "Elevated circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "enlargement-of-the-ankles",
        "name": "Enlargement of the ankles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/enlargement-of-the-ankles"
      },
      {
        "slug": "enlargement-of-the-wrists",
        "name": "Enlargement of the wrists",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/enlargement-of-the-wrists"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "flat-occiput",
        "name": "Flat back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flat-occiput"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypophosphatemia",
        "name": "Low blood phosphate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypophosphatemia"
      },
      {
        "slug": "hypocalcemic-seizures",
        "name": "Low calcium seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypocalcemic-seizures"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "secondary-hyperparathyroidism",
        "name": "Secondary hyperparathyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/secondary-hyperparathyroidism"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "sparse-bone-trabeculae",
        "name": "Sparse bone trabeculae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/sparse-bone-trabeculae"
      },
      {
        "slug": "subperiosteal-bone-resorption",
        "name": "Subperiosteal bone resorption",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/subperiosteal-bone-resorption"
      },
      {
        "slug": "thin-bony-cortex",
        "name": "Thin bony cortex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thin-bony-cortex"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rickets"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "widely-patent-fontanelles-and-sutures",
        "name": "Widely patent fontanelles and sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/widely-patent-fontanelles-and-sutures"
      }
    ],
    "related": [
      {
        "slug": "cyp27b1",
        "symbol": "CYP27B1",
        "name": "cytochrome P450 family 27 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cyp27b1"
      },
      {
        "slug": "cyp2r1",
        "symbol": "CYP2R1",
        "name": "cytochrome P450 family 2 subfamily R member 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cyp2r1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-e609d43e",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}