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Items: 1 to 20 of 268

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099180copy number variation1nstd231human GRCh38.p12 chr1: 17,015,046-18,804,744 , GRCh37 chr1: 17,341,541-19,131,238 PAX7, SDHB, 19 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
    nsv7055584inversion1nstd229human GRCh38 chr1: 17,069,887-17,072,047 , GRCh37.p13 chr1: 17,396,382-17,398,542 PADI2
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv7041465inversion1nstd229human GRCh38 chr1: 17,071,610-17,074,063 , GRCh37.p13 chr1: 17,398,105-17,400,558 PADI2
    nsv6644527copy number variation1nstd229human GRCh38 chr1: 17,099,955-17,110,339 , GRCh37.p13 chr1: 17,426,450-17,436,834 PADI2
    nsv6644452copy number variation1nstd229human GRCh38 chr1: 17,109,450-17,109,956 , GRCh37.p13 chr1: 17,435,945-17,436,451 PADI2
    nsv6637160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 17,366,386-17,491,556 , GRCh38.p12 chr1: 17,039,891-17,165,061 PADI2, SDHB, 1 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6625881copy number variation1nstd224human GRCh37 chr1: 17,371,253-17,436,661 , GRCh38.p12 chr1: 17,044,758-17,110,166 PADI2, SDHB
    nsv6550465inversion1nstd223human GRCh38 chr1: 17,092,795-17,093,345 , GRCh37.p13 chr1: 17,419,290-17,419,840 PADI2
    nsv6332073copy number variation1nstd223human GRCh38 chr1: 17,066,451-17,071,042 , GRCh37.p13 chr1: 17,392,946-17,397,537 PADI2
    nsv6329757copy number variation1nstd223human GRCh38 chr1: 17,099,961-17,110,335 , GRCh37.p13 chr1: 17,426,456-17,436,830 PADI2
    nsv6328875copy number variation1nstd223human GRCh38 chr1: 17,099,427-17,162,178 , GRCh37.p13 chr1: 17,425,922-17,488,673 LOC105376808, PADI2
    nsv6326534copy number variation1nstd223human GRCh38 chr1: 17,073,123-17,088,313 , GRCh37.p13 chr1: 17,399,618-17,414,808 PADI2
    nsv6317458copy number variation1nstd223human GRCh38 chr1: 17,106,601-17,108,200 , GRCh37.p13 chr1: 17,433,096-17,434,695 PADI2
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
    nsv6290606copy number variation1nstd102humanUncertain significance GRCh37 chr1: 17,366,386-17,501,904 , GRCh38.p12 chr1: 17,039,891-17,175,409 LOC105376808, SDHB, 1 more genes
    nsv6290472copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,773,001-20,221,073 , GRCh38.p12 chr1: 16,446,506-19,894,580 MIR1290, RNU6-1099P, 92 more genes
    nsv6290458copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,531-17,770,100 , GRCh38.p12 chr1|NW_011332688.1: 1-288,827 , GRCh38.p12 chr1: 16,958,036-17,443,604 PADI2, RCC2, 12 more genes
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