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Items: 3

1.

rs1801280 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:18400344 (GRCh38)
    8:18257854 (GRCh37)
    Gene:
    NAT2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    drug-response
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.428847/54877 (ALFA)
    C=0.019105/35 (Korea1K)
    C=0.019165/56 (KOREAN)
    C=0.063725/39 (Vietnamese)
    C=0.202247/72 (PharmGKB)
    C=0.27439/90 (HapMap)
    C=0.284355/22112 (PAGE_STUDY)
    C=0.292732/1466 (1000Genomes)
    C=0.357143/405 (Daghestan)
    T=0.362903/90 (SGDP_PRJ)
    T=0.363636/16 (Siberian)
    C=0.36409/45718 (TOPMED)
    C=0.380502/95254 (GnomAD_exomes)
    C=0.384624/46561 (ExAC)
    C=0.384876/12032 (GnomAD)
    C=0.425/17 (GENOME_DK)
    C=0.438765/1691 (ALSPAC)
    C=0.441948/236 (MGP)
    C=0.44795/1661 (TWINSUK)
    C=0.457916/457 (GoNL)
    C=0.464955/2083 (Estonian)
    C=0.470395/143 (FINRISK)
    C=0.48/288 (NorthernSweden)
    C=0.481481/104 (Qatari)
    HGVS:
    NC_000008.11:g.18400344T>C, NC_000008.10:g.18257854T>C, NG_012246.1:g.14100T>C, NM_000015.3:c.341T>C, NM_000015.2:c.341T>C, XM_017012938.1:c.341T>C, NP_000006.2:p.Ile114Thr, XP_016868427.1:p.Ile114Thr
    2.

    rs56935242 has merged into rs1801280 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      8:18400344 (GRCh38)
      8:18257854 (GRCh37)
      Gene:
      NAT2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      drug-response
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.428847/54877 (ALFA)
      C=0.019105/35 (Korea1K)
      C=0.019165/56 (KOREAN)
      C=0.063725/39 (Vietnamese)
      C=0.202247/72 (PharmGKB)
      C=0.27439/90 (HapMap)
      C=0.284355/22112 (PAGE_STUDY)
      C=0.292732/1466 (1000Genomes)
      C=0.357143/405 (Daghestan)
      T=0.362903/90 (SGDP_PRJ)
      T=0.363636/16 (Siberian)
      C=0.36409/45718 (TOPMED)
      C=0.380502/95254 (GnomAD_exomes)
      C=0.384624/46561 (ExAC)
      C=0.384876/12032 (GnomAD)
      C=0.425/17 (GENOME_DK)
      C=0.438765/1691 (ALSPAC)
      C=0.441948/236 (MGP)
      C=0.44795/1661 (TWINSUK)
      C=0.457916/457 (GoNL)
      C=0.464955/2083 (Estonian)
      C=0.470395/143 (FINRISK)
      C=0.48/288 (NorthernSweden)
      C=0.481481/104 (Qatari)
      HGVS:
      NC_000008.11:g.18400344T>C, NC_000008.10:g.18257854T>C, NG_012246.1:g.14100T>C, NM_000015.3:c.341T>C, NM_000015.2:c.341T>C, XM_017012938.1:c.341T>C, NP_000006.2:p.Ile114Thr, XP_016868427.1:p.Ile114Thr
      3.

      rs4134724 has merged into rs1801280 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        8:18400344 (GRCh38)
        8:18257854 (GRCh37)
        Gene:
        NAT2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        drug-response
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.428847/54877 (ALFA)
        C=0.019105/35 (Korea1K)
        C=0.019165/56 (KOREAN)
        C=0.063725/39 (Vietnamese)
        C=0.202247/72 (PharmGKB)
        C=0.27439/90 (HapMap)
        C=0.284355/22112 (PAGE_STUDY)
        C=0.292732/1466 (1000Genomes)
        C=0.357143/405 (Daghestan)
        T=0.362903/90 (SGDP_PRJ)
        T=0.363636/16 (Siberian)
        C=0.36409/45718 (TOPMED)
        C=0.380502/95254 (GnomAD_exomes)
        C=0.384624/46561 (ExAC)
        C=0.384876/12032 (GnomAD)
        C=0.425/17 (GENOME_DK)
        C=0.438765/1691 (ALSPAC)
        C=0.441948/236 (MGP)
        C=0.44795/1661 (TWINSUK)
        C=0.457916/457 (GoNL)
        C=0.464955/2083 (Estonian)
        C=0.470395/143 (FINRISK)
        C=0.48/288 (NorthernSweden)
        C=0.481481/104 (Qatari)
        HGVS:
        NC_000008.11:g.18400344T>C, NC_000008.10:g.18257854T>C, NG_012246.1:g.14100T>C, NM_000015.3:c.341T>C, NM_000015.2:c.341T>C, XM_017012938.1:c.341T>C, NP_000006.2:p.Ile114Thr, XP_016868427.1:p.Ile114Thr

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