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Items: 1 to 20 of 177

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5934255copy number variation1nstd209human GRCh38 chr12: 47,854,934-47,855,070 , GRCh37.p13 chr12: 48,248,717-48,248,853 VDR
    nsv5867329copy number variation1nstd209human GRCh38 chr12: 47,853,378-47,857,073 , GRCh37.p13 chr12: 48,247,161-48,250,856 VDR
    nsv5720376mobile element insertion1nstd211human GRCh38 chr12: 47,887,389-47,887,389 , GRCh37.p13 chr12: 48,281,172-48,281,172 VDR
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5511656copy number variation1nstd206human GRCh38 chr12: 47,852,599-47,852,711 , GRCh37.p13 chr12: 48,246,382-48,246,494 VDR
    nsv5507034copy number variation1nstd206human GRCh38 chr12: 47,873,354-47,873,660 , GRCh37.p13 chr12: 48,267,137-48,267,443 VDR
    nsv5499565copy number variation1nstd206human GRCh38 chr12: 47,877,047-47,877,110 , GRCh37.p13 chr12: 48,270,830-48,270,893 VDR
    nsv5380901copy number variation1nstd102humanUncertain significance GRCh37 chr12: 48,240,430-48,539,491 , GRCh38.p12 chr12: 47,846,647-48,145,708 LOC105369750, SENP1, 9 more genes
    nsv5355892translocation1nstd200human GRCh38 chr12: 47,847,153-47,847,153 , GRCh38 chr12: 47,847,004-47,847,004 , GRCh37.p13 chr12: 48,240,787-48,240,787 , GRCh37.p13 chr12: 48,240,936-48,240,936 VDR
    nsv5275869copy number variation1nstd204human GRCh38.p13 chr12: 47,872,307-47,873,819 , GRCh37.p13 chr12: 48,266,090-48,267,602 VDR
    nsv5121670mobile element insertion1nstd203human GRCh38 chr12: 47,866,271-47,866,309 , GRCh37.p13 chr12: 48,260,054-48,260,092 VDR
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
    nsv4985555copy number variation1nstd200human GRCh38 chr12: 47,848,935-47,849,226 , GRCh37.p13 chr12: 48,242,718-48,243,009 VDR
    nsv4830570copy number variation1nstd200human GRCh37 chr12: 48,240,787-48,240,936 , GRCh38.p12 chr12: 47,847,004-47,847,153 VDR
    nsv4775078mobile element deletion1nstd200human GRCh37 chr12: 48,267,137-48,267,443 , GRCh38.p12 chr12: 47,873,354-47,873,660 VDR
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4708426copy number variation1nstd195human GRCh37 chr12: 48,260,804-48,260,805 , GRCh38.p12 chr12: 47,867,021-47,867,022 VDR
    nsv4512805mobile element insertion1nstd166human GRCh37.p13 chr12: 48,257,387-48,257,387 , GRCh38.p12 chr12: 47,863,604-47,863,604 VDR
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