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Items: 1 to 20 of 362

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099257copy number variation1nstd231human GRCh38.p12 chr1: 203,396,218-207,103,915 , GRCh37 chr1: 203,365,346-207,277,260 ATP2B4, AVPR1B, 116 more genes
    nsv7095955copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,522,516-206,945,780 , GRCh38.p12 chr1: 200,553,388-206,772,435 ELF3, MAPKAPK2, 189 more genes
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv7044092inversion1nstd229human GRCh38 chr1: 203,118,726-211,305,271 , GRCh37.p13 chr1: 203,087,854-211,478,613 LOC100420418, LINC00260, 201 more genes
    nsv6675263copy number variation1nstd229human GRCh38 chr1: 206,049,268-206,055,154 , GRCh37.p13 chr1: 206,286,217-206,292,100 , GRCh37.p13 chr1|NW_003871057.1: 40,122-46,008 RHEX
    nsv6670459copy number variation1nstd229human GRCh38 chr1: 206,028,202-206,121,887 , GRCh37.p13 chr1|NW_003871057.1: 19,056-112,741 , GRCh37.p13 chr1: 206,219,444-206,313,166 AVPR1B, LOC105372857, 1 more genes
    nsv6666258copy number variation1nstd229human GRCh38 chr1: 206,058,253-206,060,312 , GRCh37.p13 chr1|NW_003871057.1: 49,107-51,166 , GRCh37.p13 chr1: 206,281,059-206,283,118 LOC105372857, RHEX
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6554773inversion1nstd223human GRCh38 chr1: 204,500,842-208,290,127 , GRCh37.p13 chr1: 204,469,970-208,463,472 RNA5SP75, LOC105372869, 108 more genes
    nsv6542256inversion1nstd223human GRCh38 chr1: 206,088,613-206,088,852 , GRCh37.p13 chr1: 206,252,480-206,252,719 , GRCh37.p13 chr1|NW_003871057.1: 79,467-79,706 RHEX
    nsv6335046copy number variation1nstd223human GRCh38 chr1: 206,052,901-206,060,300 , GRCh37.p13 chr1: 206,281,071-206,288,469 , GRCh37.p13 chr1|NW_003871057.1: 43,755-51,154 LOC105372857, RHEX
    nsv6333115copy number variation1nstd223human GRCh38 chr1: 206,052,801-206,059,600 , GRCh37.p13 chr1|NW_003871057.1: 43,655-50,454 , GRCh37.p13 chr1: 206,281,771-206,288,569 LOC105372857, RHEX
    nsv6332487copy number variation1nstd223human GRCh38 chr1: 206,052,601-206,059,700 , GRCh37.p13 chr1|NW_003871057.1: 43,455-50,554 , GRCh37.p13 chr1: 206,281,671-206,288,769 RHEX, LOC105372857
    nsv6328237copy number variation1nstd223human GRCh38 chr1: 206,053,316-206,055,108 , GRCh37.p13 chr1|NW_003871057.1: 44,170-45,962 , GRCh37.p13 chr1: 206,286,263-206,288,054 RHEX
    nsv6327842copy number variation1nstd223human GRCh38 chr1: 206,058,248-206,060,311 , GRCh37.p13 chr1: 206,281,060-206,283,123 , GRCh37.p13 chr1|NW_003871057.1: 49,102-51,165 RHEX, LOC105372857
    nsv6324599copy number variation1nstd223human GRCh38 chr1: 206,051,701-206,056,900 , GRCh37.p13 chr1: 206,284,471-206,289,667 , GRCh37.p13 chr1|NW_003871057.1: 42,555-47,754 LOC105372857, RHEX
    nsv6318317copy number variation1nstd223human GRCh38 chr1: 206,054,701-206,059,700 , GRCh37.p13 chr1|NW_003871057.1: 45,555-50,554 , GRCh37.p13 chr1: 206,281,671-206,286,670 RHEX, LOC105372857
    nsv6307915mobile element insertion1nstd186human GRCh37 chr1: 206,253,810-206,253,831 , GRCh38.p12 chr1: 206,087,501-206,087,522 RHEX
    nsv6258072mobile element insertion1nstd215human GRCh38 chr1: 206,083,059-206,083,059 , GRCh37.p13 chr1|NW_003871057.1: 73,913-73,913 , GRCh37.p13 chr1: 206,258,273-206,258,273 RHEX
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