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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5678389mobile element insertion2nstd211human GRCh38 chr1: 202,963,439-202,963,439 , GRCh37.p13 chr1: 202,932,567-202,932,567 CYB5R1
    nsv5677315mobile element insertion1nstd211human GRCh38 chr1: 202,961,490-202,961,490 , GRCh37.p13 chr1: 202,930,618-202,930,618 CYB5R1
    nsv5402888mobile element insertion1nstd206human GRCh38 chr1: 202,963,439-202,963,490 , GRCh37.p13 chr1: 202,932,567-202,932,618 CYB5R1
    nsv5396938mobile element insertion1nstd206human GRCh38 chr1: 202,961,490-202,961,517 , GRCh37.p13 chr1: 202,930,618-202,930,645 CYB5R1
    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
    nsv5071125mobile element insertion1nstd203human GRCh38 chr1: 202,961,475-202,961,490 , GRCh37.p13 chr1: 202,930,603-202,930,618 CYB5R1
    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
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4460560mobile element insertion1nstd166human GRCh37.p13 chr1: 202,930,603-202,930,603 , GRCh38.p12 chr1: 202,961,475-202,961,475 CYB5R1
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4058667copy number variation1nstd166human GRCh37.p13 chr1: 202,897,371-202,998,369 , GRCh38.p12 chr1: 202,928,243-203,029,241 PPFIA4, ADIPOR1, 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
    nsv3910929copy number variation1nstd102humanUncertain significance NCBI36 chr1: 201,131,787-201,939,146 , GRCh37.p13 chr1: 202,865,164-203,672,523 , GRCh38.p12 chr1: 202,896,036-203,703,395 RPS20P8, MYBPH, 28 more genes
    nsv3901050copy number variation1nstd102humanPathogenic GRCh38 chr1: 200,144,603-203,112,078 , NCBI36 chr1: 198,380,354-201,347,829 , GRCh37 chr1: 200,113,731-203,081,206 IPO9, CYB5R1, 80 more genes
    nsv3895767copy number variation1nstd102humanPathogenic GRCh38 chr1: 187,143,981-224,299,417 , NCBI36 chr1: 185,379,736-222,553,742 , GRCh37 chr1: 187,113,113-224,487,119 LOC107985458, SLC45A3, 590 more genes
    nsv3889347copy number variation1nstd102humanPathogenic GRCh37 chr1: 185,644,663-221,698,833 , GRCh38.p12 chr1: 185,675,531-221,525,491 MIR1231, PTPN14, 543 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
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