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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6116893mobile element insertion1nstd186human GRCh37 chr1: 152,748,428-152,748,479 , GRCh38.p12 chr1: 152,775,952-152,776,003 LCE1F
    nsv5959942insertion1nstd209human GRCh38 chr1: 152,775,938-152,775,938 , GRCh37.p13 chr1: 152,748,414-152,748,414 LCE1F
    nsv5691835mobile element insertion2nstd211human GRCh38 chr1: 152,775,952-152,775,952 , GRCh37.p13 chr1: 152,748,428-152,748,428 LCE1F
    nsv5616968insertion1nstd207human GRCh38 chr1: 152,775,938-152,775,938 , GRCh37.p13 chr1: 152,748,414-152,748,414 LCE1F
    nsv5398184mobile element insertion1nstd206human GRCh38 chr1: 152,775,952-152,776,003 , GRCh37.p13 chr1: 152,748,428-152,748,479 LCE1F
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5069474mobile element insertion1nstd203human GRCh38 chr1: 152,775,938-152,775,952 , GRCh37.p13 chr1: 152,748,414-152,748,428 LCE1F
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4718567insertion1nstd186human GRCh37 chr1: 152,748,414-152,748,414 , GRCh38.p12 chr1: 152,775,938-152,775,938 LCE1F
    nsv4703456copy number variation1nstd195human GRCh38.p12 chr1: 152,773,625-152,830,475 , GRCh37 chr1: 152,746,101-152,802,951 LCE1A, LCE1B, 4 more genes
    nsv4534770insertion1nstd166human GRCh37.p13 chr1: 152,748,414-152,748,414 , GRCh38.p12 chr1: 152,775,938-152,775,938 LCE1F
    nsv4518402copy number variation1nstd166human GRCh37.p13 chr1: 152,648,171-153,289,950 , GRCh38.p12 chr1: 152,675,695-153,317,474 SPRR2D, SMCP, 36 more genes
    nsv4410604copy number variation1nstd174human GRCh37 chr1: 152,744,949-152,773,905 , GRCh38.p12 chr1: 152,772,473-152,801,429 LCE1F, LCE1D, 1 more genes
    nsv4407298copy number variation1nstd174human GRCh37 chr1: 152,749,733-152,773,905 , GRCh38.p12 chr1: 152,777,257-152,801,429 LCE1E, LCE1D, 1 more genes
    nsv4405701copy number variation1nstd174human GRCh37 chr1: 152,749,733-152,787,707 , GRCh38.p12 chr1: 152,777,257-152,815,231 LCE1D, LCE1F, 3 more genes
    nsv4066790copy number variation1nstd166human GRCh37.p13 chr1: 152,747,376-152,756,596 , GRCh38.p12 chr1: 152,774,900-152,784,120 LCE1F
    nsv3968241copy number variation1nstd168human GRCh38 chr1: 152,740,159-152,811,303 , GRCh37.p13 chr1: 152,712,635-152,783,779 LCE1B, LCE1C, 5 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
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