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Items: 6

1.

rs1799930 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:18400593 (GRCh38)
    8:18258103 (GRCh37)
    Gene:
    NAT2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    drug-response
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.285731/55429 (ALFA)
    A=0.15016/94 (Chileans)
    A=0.202048/592 (KOREAN)
    A=0.236809/18634 (PAGE_STUDY)
    A=0.246711/75 (FINRISK)
    A=0.25463/55 (Qatari)
    A=0.264976/1327 (1000Genomes)
    A=0.265918/142 (MGP)
    A=0.26875/1204 (Estonian)
    A=0.269788/8453 (GnomAD)
    A=0.270889/34015 (TOPMED)
    A=0.27285/68188 (GnomAD_exomes)
    A=0.275716/520 (HapMap)
    A=0.27727/33553 (ExAC)
    A=0.277555/277 (GoNL)
    A=0.278333/167 (NorthernSweden)
    A=0.290183/1076 (TWINSUK)
    A=0.303062/1168 (ALSPAC)
    A=0.318627/195 (Vietnamese)
    A=0.35/14 (GENOME_DK)
    G=0.4375/105 (SGDP_PRJ)
    G=0.444444/8 (Siberian)
    HGVS:
    NC_000008.11:g.18400593G>A, NC_000008.10:g.18258103G>A, NG_012246.1:g.14349G>A, NM_000015.3:c.590G>A, NM_000015.2:c.590G>A, XM_017012938.1:c.590G>A, NP_000006.2:p.Arg197Gln, XP_016868427.1:p.Arg197Gln
    2.

    rs61467963 has merged into rs1799930 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      8:18400593 (GRCh38)
      8:18258103 (GRCh37)
      Gene:
      NAT2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      drug-response
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.285731/55429 (ALFA)
      A=0.15016/94 (Chileans)
      A=0.202048/592 (KOREAN)
      A=0.236809/18634 (PAGE_STUDY)
      A=0.246711/75 (FINRISK)
      A=0.25463/55 (Qatari)
      A=0.264976/1327 (1000Genomes)
      A=0.265918/142 (MGP)
      A=0.26875/1204 (Estonian)
      A=0.269788/8453 (GnomAD)
      A=0.270889/34015 (TOPMED)
      A=0.27285/68188 (GnomAD_exomes)
      A=0.275716/520 (HapMap)
      A=0.27727/33553 (ExAC)
      A=0.277555/277 (GoNL)
      A=0.278333/167 (NorthernSweden)
      A=0.290183/1076 (TWINSUK)
      A=0.303062/1168 (ALSPAC)
      A=0.318627/195 (Vietnamese)
      A=0.35/14 (GENOME_DK)
      G=0.4375/105 (SGDP_PRJ)
      G=0.444444/8 (Siberian)
      HGVS:
      NC_000008.11:g.18400593G>A, NC_000008.10:g.18258103G>A, NG_012246.1:g.14349G>A, NM_000015.3:c.590G>A, NM_000015.2:c.590G>A, XM_017012938.1:c.590G>A, NP_000006.2:p.Arg197Gln, XP_016868427.1:p.Arg197Gln
      3.

      rs60190029 has merged into rs1799930 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        8:18400593 (GRCh38)
        8:18258103 (GRCh37)
        Gene:
        NAT2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        drug-response
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.285731/55429 (ALFA)
        A=0.15016/94 (Chileans)
        A=0.202048/592 (KOREAN)
        A=0.236809/18634 (PAGE_STUDY)
        A=0.246711/75 (FINRISK)
        A=0.25463/55 (Qatari)
        A=0.264976/1327 (1000Genomes)
        A=0.265918/142 (MGP)
        A=0.26875/1204 (Estonian)
        A=0.269788/8453 (GnomAD)
        A=0.270889/34015 (TOPMED)
        A=0.27285/68188 (GnomAD_exomes)
        A=0.275716/520 (HapMap)
        A=0.27727/33553 (ExAC)
        A=0.277555/277 (GoNL)
        A=0.278333/167 (NorthernSweden)
        A=0.290183/1076 (TWINSUK)
        A=0.303062/1168 (ALSPAC)
        A=0.318627/195 (Vietnamese)
        A=0.35/14 (GENOME_DK)
        G=0.4375/105 (SGDP_PRJ)
        G=0.444444/8 (Siberian)
        HGVS:
        NC_000008.11:g.18400593G>A, NC_000008.10:g.18258103G>A, NG_012246.1:g.14349G>A, NM_000015.3:c.590G>A, NM_000015.2:c.590G>A, XM_017012938.1:c.590G>A, NP_000006.2:p.Arg197Gln, XP_016868427.1:p.Arg197Gln
        4.

        rs17856496 has merged into rs1799930 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:18400593 (GRCh38)
          8:18258103 (GRCh37)
          Gene:
          NAT2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          drug-response
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.285731/55429 (ALFA)
          A=0.15016/94 (Chileans)
          A=0.202048/592 (KOREAN)
          A=0.236809/18634 (PAGE_STUDY)
          A=0.246711/75 (FINRISK)
          A=0.25463/55 (Qatari)
          A=0.264976/1327 (1000Genomes)
          A=0.265918/142 (MGP)
          A=0.26875/1204 (Estonian)
          A=0.269788/8453 (GnomAD)
          A=0.270889/34015 (TOPMED)
          A=0.27285/68188 (GnomAD_exomes)
          A=0.275716/520 (HapMap)
          A=0.27727/33553 (ExAC)
          A=0.277555/277 (GoNL)
          A=0.278333/167 (NorthernSweden)
          A=0.290183/1076 (TWINSUK)
          A=0.303062/1168 (ALSPAC)
          A=0.318627/195 (Vietnamese)
          A=0.35/14 (GENOME_DK)
          G=0.4375/105 (SGDP_PRJ)
          G=0.444444/8 (Siberian)
          HGVS:
          NC_000008.11:g.18400593G>A, NC_000008.10:g.18258103G>A, NG_012246.1:g.14349G>A, NM_000015.3:c.590G>A, NM_000015.2:c.590G>A, XM_017012938.1:c.590G>A, NP_000006.2:p.Arg197Gln, XP_016868427.1:p.Arg197Gln
          5.

          rs17517027 has merged into rs1799930 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:18400593 (GRCh38)
            8:18258103 (GRCh37)
            Gene:
            NAT2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Clinical significance:
            drug-response
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.285731/55429 (ALFA)
            A=0.15016/94 (Chileans)
            A=0.202048/592 (KOREAN)
            A=0.236809/18634 (PAGE_STUDY)
            A=0.246711/75 (FINRISK)
            A=0.25463/55 (Qatari)
            A=0.264976/1327 (1000Genomes)
            A=0.265918/142 (MGP)
            A=0.26875/1204 (Estonian)
            A=0.269788/8453 (GnomAD)
            A=0.270889/34015 (TOPMED)
            A=0.27285/68188 (GnomAD_exomes)
            A=0.275716/520 (HapMap)
            A=0.27727/33553 (ExAC)
            A=0.277555/277 (GoNL)
            A=0.278333/167 (NorthernSweden)
            A=0.290183/1076 (TWINSUK)
            A=0.303062/1168 (ALSPAC)
            A=0.318627/195 (Vietnamese)
            A=0.35/14 (GENOME_DK)
            G=0.4375/105 (SGDP_PRJ)
            G=0.444444/8 (Siberian)
            HGVS:
            NC_000008.11:g.18400593G>A, NC_000008.10:g.18258103G>A, NG_012246.1:g.14349G>A, NM_000015.3:c.590G>A, NM_000015.2:c.590G>A, XM_017012938.1:c.590G>A, NP_000006.2:p.Arg197Gln, XP_016868427.1:p.Arg197Gln
            6.

            rs4646269 has merged into rs1799930 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              8:18400593 (GRCh38)
              8:18258103 (GRCh37)
              Gene:
              NAT2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              drug-response
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.285731/55429 (ALFA)
              A=0.15016/94 (Chileans)
              A=0.202048/592 (KOREAN)
              A=0.236809/18634 (PAGE_STUDY)
              A=0.246711/75 (FINRISK)
              A=0.25463/55 (Qatari)
              A=0.264976/1327 (1000Genomes)
              A=0.265918/142 (MGP)
              A=0.26875/1204 (Estonian)
              A=0.269788/8453 (GnomAD)
              A=0.270889/34015 (TOPMED)
              A=0.27285/68188 (GnomAD_exomes)
              A=0.275716/520 (HapMap)
              A=0.27727/33553 (ExAC)
              A=0.277555/277 (GoNL)
              A=0.278333/167 (NorthernSweden)
              A=0.290183/1076 (TWINSUK)
              A=0.303062/1168 (ALSPAC)
              A=0.318627/195 (Vietnamese)
              A=0.35/14 (GENOME_DK)
              G=0.4375/105 (SGDP_PRJ)
              G=0.444444/8 (Siberian)
              HGVS:
              NC_000008.11:g.18400593G>A, NC_000008.10:g.18258103G>A, NG_012246.1:g.14349G>A, NM_000015.3:c.590G>A, NM_000015.2:c.590G>A, XM_017012938.1:c.590G>A, NP_000006.2:p.Arg197Gln, XP_016868427.1:p.Arg197Gln

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