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Items: 1 to 20 of 227

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5956296insertion1nstd209human GRCh38 chr1: 169,369,756-169,369,756 , GRCh37.p13 chr1: 169,338,994-169,338,994 , BLZF1
    nsv5682545mobile element insertion2nstd211human GRCh38 chr1: 169,369,770-169,369,770 , GRCh37.p13 chr1: 169,339,008-169,339,008 , BLZF1
    nsv5613107insertion1nstd207human GRCh38 chr1: 169,369,756-169,369,756 , GRCh37.p13 chr1: 169,338,994-169,338,994 , BLZF1
    nsv5401782mobile element insertion1nstd206human GRCh38 chr1: 169,369,770-169,369,821 , GRCh37.p13 chr1: 169,339,008-169,339,059 , BLZF1
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5297699copy number variation1nstd204human GRCh38.p13 chr1: 169,377,532-169,392,222 , GRCh37.p13 chr1: 169,346,770-169,361,460 BLZF1
    nsv5204680copy number variation1nstd204human GRCh38.p13 chr1: 169,378,825-169,391,387 , GRCh37.p13 chr1: 169,348,063-169,360,625 BLZF1
    nsv5076197mobile element insertion1nstd203human GRCh38 chr1: 169,369,762-169,369,770 , GRCh37.p13 chr1: 169,339,000-169,339,008 , BLZF1
    nsv5069226mobile element insertion1nstd203human GRCh38 chr1: 169,369,061-169,369,076 , GRCh37.p13 chr1: 169,338,299-169,338,314 BLZF1
    nsv5067465mobile element insertion1nstd203human GRCh38 chr1: 169,369,760-169,369,770 , GRCh37.p13 chr1: 169,338,998-169,339,008 , BLZF1
    nsv5063795mobile element insertion1nstd203human GRCh38 chr1: 169,369,756-169,369,770 , GRCh37.p13 chr1: 169,338,994-169,339,008 , BLZF1
    nsv4784628copy number variation1nstd200human GRCh37 chr1: 169,346,772-169,361,451 , GRCh38.p12 chr1: 169,377,534-169,392,213 BLZF1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4749471copy number variation1nstd199human GRCh37 chr1: 169,362,956-169,363,019 , GRCh38.p12 chr1: 169,393,718-169,393,781 CCDC181, BLZF1
    nsv4728623copy number variation1nstd102humanUncertain significance GRCh37 chr1: 169,205,727-169,383,182 , GRCh38.p12 chr1: 169,236,489-169,413,944 CCDC181, NME7, 1 more genes
    nsv4721751insertion1nstd186human GRCh37 chr1: 169,338,994-169,338,994 , GRCh38.p12 chr1: 169,369,756-169,369,756 , BLZF1
    nsv4688405mobile element insertion1nstd186human GRCh37 chr1: 169,339,008-169,339,008 , GRCh38.p12 chr1: 169,369,770-169,369,770 , BLZF1
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4674449copy number variation1nstd102humanUncertain significance GRCh37 chr1: 169,148,346-169,806,006 , GRCh38.p12 chr1: 169,179,108-169,836,865 SLC19A2, FIRRM, 10 more genes
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