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Items: 1 to 20 of 167

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112672copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,972-45,979,054 , GRCh38.p12 chr1: 45,500,300-45,513,382 CCDC163, PRDX1, 1 more genes
    nsv5875377copy number variation1nstd209human GRCh38 chr1: 45,499,365-45,499,429 , GRCh37.p13 chr1: 45,965,037-45,965,101 MMACHC, CCDC163
    nsv5572703copy number variation1nstd207human GRCh38 chr1: 45,499,365-45,499,429 , GRCh37.p13 chr1: 45,965,037-45,965,101 MMACHC, CCDC163
    nsv5205415copy number variation1nstd204human GRCh38.p13 chr1: 45,510,308-45,512,657 , GRCh37.p13 chr1: 45,975,980-45,978,329 MMACHC, PRDX1
    nsv5197816mobile element insertion1nstd203human GRCh38 chr1: 45,498,382-45,498,382 , GRCh37.p13 chr1: 45,964,054-45,964,054 MMACHC, CCDC163
    nsv5195039mobile element insertion1nstd203human GRCh38 chr1: 45,498,387-45,498,387 , GRCh37.p13 chr1: 45,964,059-45,964,059 CCDC163, MMACHC
    nsv5194581mobile element insertion1nstd203human GRCh38 chr1: 45,498,394-45,498,394 , GRCh37.p13 chr1: 45,964,066-45,964,066 MMACHC, CCDC163
    nsv4906288copy number variation1nstd200human GRCh38 chr1: 45,495,826-45,502,742 , GRCh37.p13 chr1: 45,961,498-45,968,414 CCDC163, MMACHC
    nsv4773351copy number variation1nstd200human GRCh37 chr1: 45,974,910-45,977,043 , GRCh38.p12 chr1: 45,509,238-45,511,371 MMACHC, PRDX1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4742288copy number variation1nstd199human GRCh37 chr1: 45,965,014-45,965,081 , GRCh38.p12 chr1: 45,499,342-45,499,409 MMACHC, CCDC163
    nsv4681807copy number variation1nstd102humanPathogenic GRCh37 chr1: 45,965,995-45,974,897 , GRCh38.p12 chr1: 45,500,323-45,509,225 MMACHC, PRDX1, 1 more genes
    nsv4681710copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,973,008-45,974,907 , GRCh38.p12 chr1: 45,507,336-45,509,235 PRDX1, MMACHC
    nsv4674088copy number variation1nstd102humanUncertain significance GRCh37 chr1: 45,386,263-45,982,314 , GRCh38.p12 chr1: 44,920,591-45,516,642 TOE1, EIF2B3, 17 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4042075copy number variation1nstd166human GRCh37.p13 chr1: 45,974,910-45,977,043 , GRCh38.p12 chr1: 45,509,238-45,511,371 PRDX1, MMACHC
    nsv3957469insertion1nstd168human GRCh38 chr1: 45,509,015-45,545,656 , GRCh37.p13 chr1: 45,974,687-46,011,328 PRDX1, MMACHC, 1 more genes
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