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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7142657insertion1nstd232human GRCh37.p13 chr1: 15,714,831-15,714,831 , GRCh38.p12 chr1: 15,388,335-15,388,335 FHAD1, EFHD2-AS1
    nsv7099178copy number variation1nstd231human GRCh38.p12 chr1: 13,573,893-15,986,640 , GRCh37 chr1: 13,900,388-16,313,135 CASP9, CD24P1, 43 more genes
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv7048193inversion1nstd229human GRCh38 chr1: 9,469,567-16,279,388 , GRCh37.p13 chr1: 9,529,626-16,605,883 PRAMEF36P, HNRNPCL3, 193 more genes
    nsv6657761copy number variation1nstd229human GRCh38 chr1: 9,535,063-15,753,073 , GRCh37.p13 chr1: 9,595,122-16,079,568 SLC25A34-AS1, TMEM274P, 173 more genes
    nsv6642337copy number variation1nstd229human GRCh38 chr1: 15,387,674-15,390,564 , GRCh37.p13 chr1: 15,714,170-15,717,060 EFHD2-AS1, FHAD1
    nsv6642331copy number variation1nstd229human GRCh38 chr1: 15,365,477-15,408,808 , GRCh37.p13 chr1: 15,691,973-15,735,304 FHAD1, EFHD2-AS1, 1 more genes
    nsv6641976copy number variation1nstd229human GRCh38 chr1: 15,340,480-15,641,753 , GRCh37.p13 chr1: 15,666,976-15,968,248 CTRC, CASP9, 14 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6329176copy number variation1nstd223human GRCh38 chr1: 15,394,254-15,394,980 , GRCh37.p13 chr1: 15,720,750-15,721,476 FHAD1, EFHD2-AS1
    nsv6325949copy number variation1nstd223human GRCh38 chr1: 15,411,007-15,411,512 , GRCh37.p13 chr1: 15,737,503-15,738,008 EFHD2, EFHD2-AS1
    nsv6324650copy number variation1nstd223human GRCh38 chr1: 15,392,282-15,397,116 , GRCh37.p13 chr1: 15,718,778-15,723,612 FHAD1, EFHD2-AS1
    nsv6315241copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 10,115,497-16,283,149 , GRCh37.p13 chr1: 10,175,555-16,609,644 CASP9, CD24P1, 173 more genes
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
    nsv6209497insertion1nstd214human GRCh38 chr1: 15,388,296-15,388,296 , GRCh37.p13 chr1: 15,714,792-15,714,792 FHAD1, EFHD2-AS1
    nsv6133923copy number variation2nstd213human GRCh37 chr1: 15,070,000-16,890,001 , GRCh38.p12 chr1: 14,743,504-16,563,506 CASP9, CD24P1, 63 more genes
    nsv6133558copy number variation1nstd213human GRCh37 chr1: 15,310,000-15,850,001 , GRCh38.p12 chr1: 14,983,504-15,523,506 CASP9, CTRC, 13 more genes
    nsv6133553copy number variation1nstd213human GRCh37 chr1: 15,070,000-16,830,001 , GRCh38.p12 chr1: 14,743,504-16,503,506 CASP9, CD24P1, 53 more genes
    nsv6053322insertion1nstd212human GRCh38 chr1: 15,388,335-15,388,335 , GRCh37.p13 chr1: 15,714,831-15,714,831 FHAD1, EFHD2-AS1
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