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Items: 1 to 20 of 902

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096094copy number variation1nstd102humanUncertain significance GRCh37 chr21: 36,111,201-36,265,270 , GRCh38.p12 chr21: 34,738,904-34,892,973 LOC107985515, RUNX1, 1 more genes
    nsv7095919copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,079,578-37,133,458 , GRCh38.p12 chr21: 34,707,280-35,761,160 RUNX1, EZH2P1, 9 more genes
    nsv7095809copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,252,834-36,421,595 , GRCh38.p12 chr21: 34,880,537-35,049,298 RUNX1, RUNX1-IT1
    nsv7075861inversion1nstd229human GRCh38 chr21: 32,596,447-36,013,453 , GRCh37.p13 chr21: 33,968,757-37,385,751 , IFNAR2, 64 more genes
    nsv7074762inversion1nstd229human GRCh38 chr21: 34,924,911-34,924,980 , GRCh37.p13 chr21: 36,297,208-36,297,277 RUNX1
    nsv7070554inversion1nstd229human GRCh38 chr21: 28,138,154-35,660,050 , GRCh37.p13 chr21: 29,510,473-37,032,348 , OR7E23P, 160 more genes
    nsv7070253inversion1nstd229human GRCh38 chr21: 28,377,443-35,730,342 , GRCh37.p13 chr21: 29,749,764-37,102,640 , HUNK, 161 more genes
    nsv7060386inversion1nstd229human GRCh38 chr21: 34,646,865-38,528,329 , GRCh37.p13 chr21: 36,019,164-39,900,253 , TTC3-AS1, 70 more genes
    nsv7036692copy number variation1nstd229human GRCh38 chr21: 34,811,101-34,815,000 , GRCh37.p13 chr21: 36,183,398-36,187,297 RUNX1
    nsv7033344copy number variation1nstd229human GRCh38 chr21: 35,030,765-35,032,020 , GRCh37.p13 chr21: 36,403,062-36,404,317 RUNX1
    nsv7031700copy number variation1nstd229human GRCh38 chr21: 35,011,118-35,014,053 , GRCh37.p13 chr21: 36,383,415-36,386,350 RUNX1
    nsv7031403copy number variation1nstd229human GRCh38 chr21: 34,898,213-34,914,715 , GRCh37.p13 chr21: 36,270,510-36,287,012 RUNX1
    nsv7030745copy number variation1nstd229human GRCh38 chr21: 34,810,542-34,821,817 , GRCh37.p13 chr21: 36,182,839-36,194,114 RUNX1
    nsv7030371copy number variation1nstd229human GRCh38 chr21: 34,851,453-34,852,332 , GRCh37.p13 chr21: 36,223,750-36,224,629 RUNX1
    nsv7029422copy number variation1nstd229human GRCh38 chr21: 34,974,858-35,011,557 , GRCh37.p13 chr21: 36,347,155-36,383,854 RUNX1
    nsv7026477copy number variation1nstd229human GRCh38 chr21: 34,923,687-34,923,898 , GRCh37.p13 chr21: 36,295,984-36,296,195 RUNX1
    nsv7025907copy number variation1nstd229human GRCh38 chr21: 34,844,848-34,852,638 , GRCh37.p13 chr21: 36,217,145-36,224,935 RUNX1
    nsv7024622copy number variation1nstd229human GRCh38 chr21: 34,807,735-34,810,769 , GRCh37.p13 chr21: 36,180,032-36,183,066 RUNX1
    nsv7024104copy number variation1nstd229human GRCh38 chr21: 34,951,558-34,958,423 , GRCh37.p13 chr21: 36,323,855-36,330,720 RUNX1
    nsv7021379copy number variation1nstd229human GRCh38 chr21: 34,992,860-35,001,089 , GRCh37.p13 chr21: 36,365,157-36,373,386 RUNX1
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