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Items: 1 to 20 of 147

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148223copy number variation1nstd102humanPathogenic GRCh38 chr1: 61,077,177-62,865,614 , GRCh37.p13 chr1: 61,542,849-63,331,285 RPL13AP9, LOC105378768, 24 more genes
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099208copy number variation1nstd231human GRCh38.p12 chr1: 59,526,542-66,009,490 , GRCh37 chr1: 59,992,214-66,475,173 AK4, CYP2J2, 96 more genes
    nsv7095627copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,548,464-67,861,772 , GRCh38.p12 chr1: 61,082,792-67,396,089 ALG6, MIR3116-2, 94 more genes
    nsv7039143inversion1nstd229human GRCh38 chr1: 61,633,784-64,711,589 , GRCh37.p13 chr1: 62,099,456-65,177,272 MGC34796, RN7SL130P, 53 more genes
    nsv6652795copy number variation1nstd229human GRCh38 chr1: 62,591,745-62,601,205 , GRCh37.p13 chr1: 63,057,416-63,066,876 ANGPTL3, DOCK7
    nsv6542115inversion1nstd223human GRCh38 chr1: 61,925,268-71,371,290 , GRCh37.p13 chr1: 62,390,940-71,836,973 PATJ, GNG12-AS1, 142 more genes
    nsv6334067copy number variation1nstd223human GRCh38 chr1: 62,508,863-62,717,990 , GRCh37.p13 chr1: 62,974,534-63,183,661 RPL13AP9, DOCK7, 1 more genes
    nsv6325471copy number variation1nstd223human GRCh38 chr1: 62,598,001-62,598,700 , GRCh37.p13 chr1: 63,063,672-63,064,371 ANGPTL3, DOCK7
    nsv6319890copy number variation1nstd223human GRCh38 chr1: 62,600,218-62,600,903 , GRCh37.p13 chr1: 63,065,889-63,066,574 ANGPTL3, DOCK7
    nsv6310886copy number variation1nstd102humanPathogenic GRCh37 chr1: 62,921,085-63,153,935 , GRCh38.p12 chr1: 62,455,414-62,688,264 DOCK7, ANGPTL3, 1 more genes
    nsv6133777copy number variation1nstd213human GRCh37 chr1: 63,000,000-63,320,001 , GRCh38.p12 chr1: 62,534,329-62,854,330 ANGPTL3, ATG4C, 2 more genes
    nsv5381136copy number variation1nstd102humanUncertain significance GRCh37 chr1: 63,063,238-63,153,935 , GRCh38.p12 chr1: 62,597,567-62,688,264 RPL13AP9, ANGPTL3, 1 more genes
    nsv5202671copy number variation1nstd204human GRCh38.p13 chr1: 62,600,201-62,606,900 , GRCh37.p13 chr1: 63,065,872-63,072,571 ANGPTL3, DOCK7
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    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
    nsv4594606copy number variation2nstd183human GRCh37 chr1: 63,070,601-63,083,764 , GRCh38.p12 chr1: 62,604,930-62,618,093 DOCK7, ANGPTL3
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