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Items: 1 to 20 of 252

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7139904insertion1nstd232human GRCh37.p13 chr1: 241,675,445-241,675,445 , GRCh38.p12 chr1: 241,512,145-241,512,145 FH
    nsv7099270copy number variation1nstd231human GRCh38.p12 chr1: 237,610,040-242,246,069 , GRCh37 chr1: 237,773,340-242,409,371 CHML, CHRM3, 59 more genes
    nsv7096037copy number variation1nstd102humanPathogenic GRCh37 chr1: 241,663,727-241,663,900 , GRCh38.p12 chr1: 241,500,427-241,500,600 FH
    nsv7095984copy number variation1nstd102humanUncertain significance GRCh37 chr1: 241,661,128-241,677,023 , GRCh38.p12 chr1: 241,497,828-241,513,723 FH
    nsv7095520copy number variation1nstd102humanUncertain significance GRCh37 chr1: 241,661,128-244,218,672 , GRCh38.p12 chr1: 241,497,828-244,055,370 LOC105373231, LOC105373234, 39 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7052317inversion1nstd229human GRCh38 chr1: 241,490,183-241,546,459 , GRCh37.p13 chr1: 241,653,483-241,709,759 KMO, FH
    nsv7050815inversion1nstd229human GRCh38 chr1: 240,664,933-241,655,110 , GRCh37.p13 chr1: 240,828,233-241,818,412 THAP12P8, OPN3, 12 more genes
    nsv7048087inversion1nstd229human GRCh38 chr1: 240,132,685-242,030,818 , GRCh37.p13 chr1: 240,295,985-242,194,120 RPS11P2, MIR3123, 27 more genes
    nsv7040493inversion1nstd229human GRCh38 chr1: 240,436,239-242,512,823 , GRCh37.p13 chr1: 240,599,539-242,676,125 CFL1P4, RNU5F-8P, 34 more genes
    nsv7038410inversion1nstd229human GRCh38 chr1: 240,665,018-241,655,164 , GRCh37.p13 chr1: 240,828,318-241,818,466 LOC100506929, MIR3123, 12 more genes
    nsv6674263copy number variation1nstd229human GRCh38 chr1: 241,503,401-241,505,500 , GRCh37.p13 chr1: 241,666,701-241,668,800 FH
    nsv6673142copy number variation1nstd229human GRCh38 chr1: 240,779,703-242,915,971 , GRCh37.p13 chr1: 240,943,003-243,079,273 OPN3, LOC107985466, 30 more genes
    nsv6672742copy number variation1nstd229human GRCh38 chr1: 241,326,784-241,678,502 , GRCh37.p13 chr1: 241,490,084-241,841,804 KMO, RGS7, 4 more genes
    nsv6663982copy number variation1nstd229human GRCh38 chr1: 240,912,743-242,394,973 , GRCh37.p13 chr1: 241,076,043-242,558,275 HNRNPA1P42, LOC105373231, 24 more genes
    nsv6661680copy number variation1nstd229human GRCh38 chr1: 241,326,577-241,683,439 , GRCh37.p13 chr1: 241,489,877-241,846,741 WDR64, OPN3, 4 more genes
    nsv6660725copy number variation1nstd229human GRCh38 chr1: 241,468,061-241,496,306 , GRCh37.p13 chr1: 241,631,361-241,659,606 FH
    nsv6658877copy number variation1nstd229human GRCh38 chr1: 241,485,247-241,569,900 , GRCh37.p13 chr1: 241,648,547-241,733,200 KMO, FH
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