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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5875168copy number variation1nstd209human GRCh38 chr1: 65,426,143-65,426,230 , GRCh37.p13 chr1: 65,891,826-65,891,913 LEPR, LEPROT
    nsv5680695mobile element insertion1nstd211human GRCh38 chr1: 65,423,004-65,423,004 , GRCh37.p13 chr1: 65,888,687-65,888,687 LEPROT, LEPR
    nsv5618998insertion1nstd207human GRCh38 chr1: 65,426,143-65,426,143 , GRCh37.p13 chr1: 65,891,826-65,891,826 LEPROT, LEPR
    nsv5548374insertion1nstd206human GRCh38 chr1: 65,430,736-65,430,739 , GRCh37.p13 chr1: 65,896,419-65,896,422 LEPROT, LEPR
    nsv5405320mobile element insertion1nstd206human GRCh38 chr1: 65,423,004-65,423,055 , GRCh37.p13 chr1: 65,888,687-65,888,738 LEPR, LEPROT
    nsv4903584copy number variation1nstd200human GRCh38 chr1: 65,388,049-65,490,344 , GRCh37.p13 chr1: 65,853,732-65,956,027 DNAJC6, LEPR, 2 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4780910copy number variation1nstd200human GRCh37 chr1: 65,853,732-65,956,027 , GRCh38.p12 chr1: 65,388,049-65,490,344 LEPROT, LEPR, 2 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4647090copy number variation1nstd186human GRCh37 chr1: 65,891,826-65,891,916 , GRCh38.p12 chr1: 65,426,143-65,426,233 LEPR, LEPROT
    nsv4594623copy number variation1nstd183human GRCh37 chr1: 65,853,877-65,957,540 , GRCh38.p12 chr1: 65,388,194-65,491,857 DNAJC6, LEPROT, 2 more genes
    nsv4594622copy number variation1nstd183human GRCh37 chr1: 65,852,064-65,957,141 , GRCh38.p12 chr1: 65,386,381-65,491,458 DNAJC6, LEPROT, 2 more genes
    nsv4534081insertion1nstd166human GRCh37.p13 chr1: 65,896,419-65,896,419 , GRCh38.p12 chr1: 65,430,736-65,430,736 LEPROT, LEPR
    nsv4518247copy number variation1nstd166human GRCh37.p13 chr1: 65,891,826-65,891,916 , GRCh38.p12 chr1: 65,426,143-65,426,233 LEPROT, LEPR
    nsv4454633copy number variation1nstd102humanUncertain significance GRCh37 chr1: 65,853,698-65,969,430 , GRCh38.p12 chr1: 65,388,015-65,503,747 DNAJC6, LEPR, 2 more genes
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 more genes
    nsv4453556copy number variation1nstd102humanUncertain significance GRCh37 chr1: 65,853,698-65,965,376 , GRCh38.p12 chr1: 65,388,015-65,499,693 LEPR, LEPROT, 2 more genes
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