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Items: 1 to 20 of 114

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5610091insertion1nstd207human GRCh38 chr1: 154,402,391-154,402,391 , GRCh37.p13 chr1: 154,374,867-154,374,867 IL6R-AS1
    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
    nsv5211686copy number variation1nstd204human GRCh38.p13 chr1: 153,974,901-155,189,600 , GRCh37.p13 chr1: 153,947,377-155,161,231 JTB, PYGO2-AS1, 56 more genes
    nsv5194314mobile element insertion1nstd203human GRCh38 chr1: 154,402,397-154,402,406 , GRCh37.p13 chr1: 154,374,873-154,374,882 IL6R-AS1
    nsv5193445mobile element insertion1nstd203human GRCh38 chr1: 154,402,390-154,402,406 , GRCh37.p13 chr1: 154,374,866-154,374,882 IL6R-AS1
    nsv5187452mobile element insertion1nstd203human GRCh38 chr1: 154,402,391-154,402,406 , GRCh37.p13 chr1: 154,374,867-154,374,882 IL6R-AS1
    nsv5186275mobile element insertion1nstd203human GRCh38 chr1: 154,402,394-154,402,401 , GRCh37.p13 chr1: 154,374,870-154,374,877 IL6R-AS1
    nsv5180842mobile element insertion1nstd203human GRCh38 chr1: 154,402,395-154,402,406 , GRCh37.p13 chr1: 154,374,871-154,374,882 IL6R-AS1
    nsv5180244mobile element insertion1nstd203human GRCh38 chr1: 154,402,396-154,402,406 , GRCh37.p13 chr1: 154,374,872-154,374,882 IL6R-AS1
    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
    nsv4559497mobile element insertion1nstd166human GRCh37.p13 chr1: 154,374,867-154,374,867 , GRCh38.p12 chr1: 154,402,391-154,402,391 IL6R-AS1
    nsv4067051copy number variation1nstd166human GRCh37.p13 chr1: 154,374,882-154,374,958 , GRCh38.p12 chr1: 154,402,406-154,402,482 IL6R-AS1
    nsv3964013insertion1nstd168human GRCh38 chr1: 154,389,426-154,403,695 , GRCh37.p13 chr1: 154,361,902-154,376,171 IL6R, IL6R-AS1
    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
    nsv3917906copy number variation1nstd102humanUncertain significance NCBI36 chr1: 152,485,893-152,774,132 , GRCh37.p13 chr1: 154,219,269-154,507,508 , GRCh38.p12 chr1: 154,246,793-154,535,032 TDRD10, RNU6-239P, 13 more genes
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 SMU1P1, LOC100419798, 152 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
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877 ADAR, BGLAP, 136 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
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