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Items: 1 to 20 of 247

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099252copy number variation1nstd231human GRCh38.p12 chr1: 179,130,308-181,685,140 , GRCh37 chr1: 179,099,443-181,654,276 ABL2, CACNA1E, 48 more genes
    nsv7043827inversion1nstd229human GRCh38 chr1: 179,850,073-179,850,275 , GRCh37.p13 chr1: 179,819,208-179,819,410 TOR1AIP2
    nsv6645735copy number variation1nstd229human GRCh38 chr1: 179,837,281-179,838,673 , GRCh37.p13 chr1: 179,806,416-179,807,808 TOR1AIP2
    nsv6645732copy number variation1nstd229human GRCh38 chr1: 179,769,936-180,207,393 , GRCh37.p13 chr1: 179,739,071-180,176,528 TOR1AIP1, TOR1AIP2, 11 more genes
    nsv6645690copy number variation1nstd229human GRCh38 chr1: 179,835,948-179,854,802 , GRCh37.p13 chr1: 179,805,083-179,823,937 LINC02818, TOR1AIP2
    nsv6645589copy number variation1nstd229human GRCh38 chr1: 179,867,550-179,874,020 , GRCh37.p13 chr1: 179,836,685-179,843,155 TOR1AIP2
    nsv6645214copy number variation1nstd229human GRCh38 chr1: 179,838,140-179,838,635 , GRCh37.p13 chr1: 179,807,275-179,807,770 TOR1AIP2
    nsv6637124copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,727,182-192,260,142 , GRCh38.p12 chr1: 179,758,047-192,291,012 LOC101928933, KIAA1614-AS1, 148 more genes
    nsv6548235inversion1nstd223human GRCh38 chr1: 179,859,998-179,860,310 , GRCh37.p13 chr1: 179,829,133-179,829,445 TOR1AIP2
    nsv6548214inversion1nstd223human GRCh38 chr1: 179,874,748-179,874,983 , GRCh37.p13 chr1: 179,843,883-179,844,118 TOR1AIP2
    nsv6546692inversion1nstd223human GRCh38 chr1: 179,855,997-179,856,864 , GRCh37.p13 chr1: 179,825,132-179,825,999 TOR1AIP2
    nsv6539230inversion1nstd223human GRCh38 chr1: 179,850,073-179,850,275 , GRCh37.p13 chr1: 179,819,208-179,819,410 TOR1AIP2
    nsv6538365inversion1nstd223human GRCh38 chr1: 178,815,320-184,820,865 , GRCh37.p13 chr1: 178,784,455-184,789,999 NPHS2, COLGALT2, 111 more genes
    nsv6318860copy number variation1nstd223human GRCh38 chr1: 179,769,936-180,207,393 , GRCh37.p13 chr1: 179,739,071-180,176,528 FAM163A, LOC105371634, 11 more genes
    nsv6318132copy number variation1nstd223human GRCh38 chr1: 179,837,278-179,838,675 , GRCh37.p13 chr1: 179,806,413-179,807,810 TOR1AIP2
    nsv6310922copy number variation1nstd102humanUncertain significance GRCh37 chr1: 179,520,308-183,559,464 , GRCh38.p12 chr1: 179,551,173-183,590,329 NMNAT2, FAM163A, 78 more genes
    nsv6290451copy number variation1nstd102humanPathogenic GRCh37 chr1: 178,522,021-190,322,133 , GRCh38.p12 chr1: 178,552,886-190,353,003 RNU7-13P, LOC105371642, 167 more genes
    nsv6246025mobile element insertion1nstd215human GRCh38 chr1: 179,863,677-179,863,677 , GRCh37.p13 chr1: 179,832,812-179,832,812 TOR1AIP2
    nsv6246014mobile element insertion1nstd215human GRCh38 chr1: 179,859,149-179,859,149 , GRCh37.p13 chr1: 179,828,284-179,828,284 TOR1AIP2
    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
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