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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095740copy number variation1nstd102humanUncertain significance GRCh37 chr1: 113,456,513-116,311,162 , GRCh38.p12 chr1: 112,913,891-115,768,541 TRIM33, PHTF1, 55 more genes
    nsv7095696copy number variation1nstd102humanPathogenic GRCh37 chr1: 112,318,699-115,576,848 , GRCh38.p12 chr1: 111,776,077-115,034,227 AKR7A2P1, PTPN22, 69 more genes
    nsv7039033inversion1nstd229human GRCh38 chr1: 113,396,540-116,450,790 , GRCh37.p13 chr1: 113,939,162-116,993,412 ELOCP20, NHLH2, 60 more genes
    nsv6640605copy number variation1nstd229human GRCh38 chr1: 114,658,108-114,677,068 , GRCh37.p13 chr1: 115,200,729-115,219,689 DENND2C, AMPD1
    nsv6640285copy number variation1nstd229human GRCh38 chr1: 114,645,101-114,672,900 , GRCh37.p13 chr1: 115,187,722-115,215,521 AMPD1, DENND2C
    nsv6636396copy number variation1nstd102humanUncertain significance GRCh37 chr1: 114,833,697-115,377,089 , GRCh38.p12 chr1: 114,291,075-114,834,468 NR1H5P, RN7SL432P, 13 more genes
    nsv6554453inversion1nstd223human GRCh38 chr1: 114,681,380-114,682,655 , GRCh37.p13 chr1: 115,224,001-115,225,276 AMPD1
    nsv6549317inversion1nstd223human GRCh38 chr1: 111,078,274-116,976,218 , GRCh37.p13 chr1: 111,620,896-117,518,840 RNU6-792P, TXNP3, 141 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6299084copy number variation1nstd186human GRCh37 chr1: 112,230,457-115,692,621 , GRCh38.p12 chr1: 111,687,835-115,150,000 , WNT2B, 77 more genes
    nsv6133548copy number variation1nstd213human GRCh37 chr1: 114,920,000-115,820,001 , GRCh38.p12 chr1: 114,377,378-115,277,380 AMPD1, NRAS, 17 more genes
    nsv5690797mobile element insertion1nstd211human GRCh38 chr1: 114,695,410-114,695,410 , GRCh37.p13 chr1: 115,238,031-115,238,031 AMPD1
    nsv5429360copy number variation1nstd206human GRCh38 chr1: 111,687,835-115,150,000 , GRCh37.p13 chr1: 112,230,457-115,692,621 , ST7L, 77 more genes
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv5322189translocation1nstd204human GRCh38.p13 chr1: 114,692,121-114,692,121 , GRCh38.p13 chr1: 114,689,679-114,689,679 , GRCh37.p13 chr1: 115,234,742-115,234,742 , GRCh37.p13 chr1: 115,232,300-115,232,300 AMPD1
    nsv4890897copy number variation1nstd200human GRCh38 chr1: 114,680,006-114,681,658 , GRCh37.p13 chr1: 115,222,627-115,224,279 AMPD1
    nsv4890896copy number variation1nstd200human GRCh38 chr1: 114,677,714-114,678,503 , GRCh37.p13 chr1: 115,220,335-115,221,124 AMPD1
    nsv4773774copy number variation1nstd200human GRCh37 chr1: 115,222,627-115,224,279 , GRCh38.p12 chr1: 114,680,006-114,681,658 AMPD1
    nsv4773773copy number variation1nstd200human GRCh37 chr1: 115,220,335-115,221,124 , GRCh38.p12 chr1: 114,677,714-114,678,503 AMPD1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
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