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Items: 1 to 20 of 160

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099257copy number variation1nstd231human GRCh38.p12 chr1: 203,396,218-207,103,915 , GRCh37 chr1: 203,365,346-207,277,260 ATP2B4, AVPR1B, 116 more genes
    nsv7095955copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,522,516-206,945,780 , GRCh38.p12 chr1: 200,553,388-206,772,435 ELF3, MAPKAPK2, 189 more genes
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv7044092inversion1nstd229human GRCh38 chr1: 203,118,726-211,305,271 , GRCh37.p13 chr1: 203,087,854-211,478,613 LOC100420418, LINC00260, 201 more genes
    nsv6666276copy number variation1nstd229human GRCh38 chr1: 205,767,327-205,767,416 , GRCh37.p13 chr1: 205,736,455-205,736,544 RAB29
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6554773inversion1nstd223human GRCh38 chr1: 204,500,842-208,290,127 , GRCh37.p13 chr1: 204,469,970-208,463,472 RNA5SP75, LOC105372869, 108 more genes
    nsv6133967copy number variation1nstd213human GRCh37 chr1: 203,630,000-205,910,001 , GRCh38.p12 chr1: 203,660,872-205,940,873 PLEKHA6, KLHDC8A, 73 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133846copy number variation1nstd213human GRCh37 chr1: 203,140,000-205,920,001 , GRCh38.p12 chr1: 203,170,872-205,950,873 CHIT1, ELK4, 90 more genes
    nsv6133626copy number variation1nstd213human GRCh37 chr1: 205,160,000-206,320,001 , GRCh38.p12 chr1: 205,190,872-205,953,579 CDK18, LEMD1-AS1, 29 more genes
    nsv5438578copy number variation1nstd206human GRCh38 chr1: 205,767,327-205,767,417 , GRCh37.p13 chr1: 205,736,455-205,736,545 RAB29
    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
    nsv5069951mobile element insertion1nstd203human GRCh38 chr1: 205,769,584-205,769,600 , GRCh37.p13 chr1: 205,738,712-205,738,728 RAB29
    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
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
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