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Items: 1 to 20 of 215

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5870697copy number variation1nstd209human GRCh38 chr1: 8,996,155-8,996,275 , GRCh37.p13 chr1: 9,056,214-9,056,334 SLC2A7
    nsv5830802copy number variation1nstd209human GRCh38 chr1: 8,994,512-9,018,645 , GRCh37.p13 chr1: 9,054,571-9,078,704 SLC2A7
    nsv5675737mobile element insertion2nstd211human GRCh38 chr1: 8,994,602-8,994,602 , GRCh37.p13 chr1: 9,054,661-9,054,661 SLC2A7
    nsv5422653copy number variation1nstd206human GRCh38 chr1: 8,996,158-8,996,276 , GRCh37.p13 chr1: 9,056,217-9,056,335 SLC2A7
    nsv5362962translocation1nstd200human GRCh38 chr1: 9,031,495-9,031,495 , GRCh38 chr1: 9,022,942-9,022,942 , GRCh37.p13 chr1: 9,083,001-9,083,001 , GRCh37.p13 chr1: 9,091,554-9,091,554 SLC2A7
    nsv5353719translocation1nstd200human GRCh38 chr1: 8,996,158-8,996,158 , GRCh38 chr1: 8,996,276-8,996,276 , GRCh37.p13 chr1: 9,056,335-9,056,335 , GRCh37.p13 chr1: 9,056,217-9,056,217 SLC2A7
    nsv5333251translocation1nstd200human GRCh37 chr1: 9,083,001-9,083,001 , GRCh37 chr1: 9,091,554-9,091,554 , GRCh38.p12 chr1: 9,022,942-9,022,942 , GRCh38.p12 chr1: 9,031,495-9,031,495 SLC2A7
    nsv4889738copy number variation1nstd200human GRCh38 chr1: 9,017,167-9,078,116 , GRCh37.p13 chr1: 9,077,226-9,138,175 SLC2A5, SLC2A7
    nsv4889737copy number variation1nstd200human GRCh38 chr1: 8,987,228-9,053,826 , GRCh37.p13 chr1: 9,047,287-9,113,885 SLC2A7, SLC2A5
    nsv4782852copy number variation1nstd200human GRCh37 chr1: 9,077,336-9,079,858 , GRCh38.p12 chr1: 9,017,277-9,019,799 SLC2A7
    nsv4782851copy number variation1nstd200human GRCh37 chr1: 9,077,226-9,138,175 , GRCh38.p12 chr1: 9,017,167-9,078,116 SLC2A7, SLC2A5
    nsv4782850copy number variation1nstd200human GRCh37 chr1: 9,069,737-9,070,523 , GRCh38.p12 chr1: 9,009,678-9,010,464 SLC2A7
    nsv4728219copy number variation1nstd102humanUncertain significance GRCh37 chr1: 8,869,809-9,115,610 , GRCh38.p12 chr1: 8,809,750-9,055,551 MIR6728, RERE, 10 more genes
    nsv4674579copy number variation1nstd102humanUncertain significance GRCh37 chr1: 8,850,514-9,092,079 , GRCh38.p12 chr1: 8,790,455-9,032,020 ENO1-AS1, RERE, 10 more genes
    nsv4581909copy number variation1nstd183human GRCh37 chr1: 9,054,584-9,081,001 , GRCh38.p12 chr1: 8,994,525-9,020,942 SLC2A7
    nsv4451859copy number variation1nstd102humanUncertain significance GRCh37 chr1: 8,698,108-9,266,627 , GRCh38.p12 chr1: 8,638,049-9,206,568 RPL7P7, ENO1-AS1, 17 more genes
    nsv4450484copy number variation1nstd102humanUncertain significance GRCh37 chr1: 8,850,514-9,094,343 , GRCh38.p12 chr1: 8,790,455-9,034,284 RPL27P3, RNU6-304P, 11 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436631copy number variation1nstd102humanPathogenic GRCh37 chr1: 554,375-9,779,842 , GRCh38.p12 chr1: 618,995-9,719,784 LINC02606, SCNN1D, 253 more genes
    nsv4436526complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-16,409,637 , GRCh37 chr1: 909,238-16,736,132 RERE, CA6, 415 more genes
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