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Items: 1 to 20 of 183

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv4898029copy number variation1nstd200human GRCh38 chr1: 171,730,320-171,732,414 , GRCh37.p13 chr1: 171,699,460-171,701,554 VAMP4
    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
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4594077copy number variation1nstd183human GRCh37 chr1: 171,016,086-171,726,961 , GRCh38.p12 chr1: 171,046,945-171,757,821 MYOCOS, PFN1P1, 23 more genes
    nsv4579979copy number variation1nstd183human GRCh37 chr1: 171,557,154-171,719,518 , GRCh38.p12 chr1: 171,588,015-171,750,378 MYOC, VAMP4, 5 more genes
    nsv4537119insertion1nstd166human GRCh37.p13 chr1: 171,707,272-171,707,272 , GRCh38.p12 chr1: 171,738,132-171,738,132 VAMP4
    nsv4518164copy number variation1nstd166human GRCh37.p13 chr1: 171,698,895-171,955,783 , GRCh38.p12 chr1: 171,729,755-171,986,643 , VAMP4, 8 more genes
    nsv4459681mobile element insertion1nstd166human GRCh37.p13 chr1: 171,689,876-171,689,876 , GRCh38.p12 chr1: 171,720,736-171,720,736 VAMP4
    nsv4459563mobile element insertion1nstd166human GRCh37.p13 chr1: 171,700,659-171,700,659 , GRCh38.p12 chr1: 171,731,519-171,731,519 VAMP4
    nsv4459362mobile element insertion1nstd166human GRCh37.p13 chr1: 171,673,991-171,673,991 , GRCh38.p12 chr1: 171,704,851-171,704,851 VAMP4
    nsv4385374copy number variation1nstd173human GRCh37 chr1: 171,705,440-171,955,295 , GRCh38.p12 chr1: 171,736,300-171,986,155 , RPS15P3, 8 more genes
    nsv4346686copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,423,492-180,367,623 , GRCh38.p12 chr1: 169,454,254-180,398,488 TNFSF4, MIR3119-1, 202 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4070377copy number variation1nstd166human GRCh37.p13 chr1: 171,699,007-171,699,387 , GRCh38.p12 chr1: 171,729,867-171,730,247 VAMP4
    nsv4062521copy number variation1nstd166human GRCh37.p13 chr1: 171,533,469-172,923,559 , GRCh38.p12 chr1: 171,564,330-172,954,419 , METTL13, 28 more genes
    nsv4058074copy number variation1nstd166human GRCh37.p13 chr1: 171,660,000-171,668,000 , GRCh38.p12 chr1: 171,690,860-171,698,860 VAMP4
    nsv3937680insertion1nstd167human GRCh37 chr1: 171,672,565-171,672,565 , GRCh38.p12 chr1: 171,703,425-171,703,425 VAMP4
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