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Items: 1 to 20 of 330

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143302insertion1nstd232human GRCh37.p13 chr1: 12,012,795-12,012,795 , GRCh38.p12 chr1: 11,952,738-11,952,738 PLOD1
    nsv7099176copy number variation1nstd231human GRCh38.p12 chr1: 10,224,807-12,488,948 , GRCh37 chr1: 10,284,865-12,549,002 TNFRSF8, CLCN6, 64 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7096008copy number variation1nstd102humanUncertain significance GRCh37 chr1: 9,304,994-12,569,078 , GRCh38.p12 chr1: 9,244,935-12,509,024 NMNAT1, DISP3, 91 more genes
    nsv7095701copy number variation1nstd102humanPathogenic GRCh37 chr1: 12,008,013-12,008,144 , GRCh38.p12 chr1: 11,947,956-11,948,087 PLOD1
    nsv7095700copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,906,066-12,066,770 , GRCh38.p12 chr1: 11,846,009-12,006,713 NPPB, PLOD1, 7 more genes
    nsv7095699copy number variation1nstd102humanUncertain significance GRCh37 chr1: 11,847,760-12,066,770 , GRCh38.p12 chr1: 11,787,703-12,006,713 MTHFR, NPPB, 10 more genes
    nsv7057525inversion1nstd229human GRCh38 chr1: 7,829,944-15,116,659 , GRCh37.p13 chr1: 7,890,004-15,443,155 PEX14, RNU6-304P, 187 more genes
    nsv7052549inversion1nstd229human GRCh38 chr1: 8,322,830-13,737,741 , GRCh37.p13 chr1: 8,382,890-14,064,236 MIR4632, PLOD1, 166 more genes
    nsv7048193inversion1nstd229human GRCh38 chr1: 9,469,567-16,279,388 , GRCh37.p13 chr1: 9,529,626-16,605,883 PRAMEF36P, HNRNPCL3, 193 more genes
    nsv7047983inversion1nstd229human GRCh38 chr1: 5,346,988-12,521,611 , GRCh37.p13 chr1: 5,407,048-12,581,655 THAP3, UBIAD1, 165 more genes
    nsv7046461inversion1nstd229human GRCh38 chr1: 5,352,168-12,521,473 , GRCh37.p13 chr1: 5,412,228-12,581,517 LINC02606, C1orf127, 165 more genes
    nsv6657761copy number variation1nstd229human GRCh38 chr1: 9,535,063-15,753,073 , GRCh37.p13 chr1: 9,595,122-16,079,568 SLC25A34-AS1, TMEM274P, 173 more genes
    nsv6640997copy number variation1nstd229human GRCh38 chr1: 11,918,428-11,932,810 , GRCh37.p13 chr1: 11,978,485-11,992,867 KIAA2013, PLOD1
    nsv6640982copy number variation1nstd229human GRCh38 chr1: 11,872,601-12,215,400 , GRCh37.p13 chr1: 11,932,658-12,275,457 TNFRSF8, RNU6-777P, 13 more genes
    nsv6640969copy number variation1nstd229human GRCh38 chr1: 11,934,933-11,934,964 , GRCh37.p13 chr1: 11,994,990-11,995,021 PLOD1
    nsv6640786copy number variation1nstd229human GRCh38 chr1: 11,963,557-11,969,121 , GRCh37.p13 chr1: 12,023,614-12,029,178 PLOD1
    nsv6640785copy number variation1nstd229human GRCh38 chr1: 11,962,151-11,977,333 , GRCh37.p13 chr1: 12,022,208-12,037,390 PLOD1
    nsv6640782copy number variation1nstd229human GRCh38 chr1: 11,949,697-12,005,360 , GRCh37.p13 chr1: 12,009,754-12,065,417 PLOD1, MFN2
    nsv6640778copy number variation1nstd229human GRCh38 chr1: 11,928,624-11,933,383 , GRCh37.p13 chr1: 11,988,681-11,993,440 PLOD1
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