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Items: 5

1.

rs1799931 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    8:18400860 (GRCh38)
    8:18258370 (GRCh37)
    Gene:
    NAT2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    drug-response
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.03171/5028 (ALFA)
    A=0.01/6 (NorthernSweden)
    A=0.014981/8 (MGP)
    A=0.01972/76 (ALSPAC)
    A=0.022654/84 (TWINSUK)
    A=0.025/1 (GENOME_DK)
    A=0.02505/25 (GoNL)
    A=0.032407/7 (Qatari)
    A=0.036184/11 (FINRISK)
    A=0.041314/1297 (GnomAD)
    A=0.043379/5447 (TOPMED)
    A=0.044014/50 (Daghestan)
    A=0.044196/198 (Estonian)
    A=0.055273/6140 (ExAC)
    A=0.057573/13017 (GnomAD_exomes)
    A=0.058855/111 (HapMap)
    A=0.069416/5463 (PAGE_STUDY)
    A=0.077276/387 (1000Genomes)
    A=0.08427/30 (PharmGKB)
    A=0.125939/369 (KOREAN)
    A=0.136463/250 (Korea1K)
    A=0.155993/95 (Vietnamese)
    G=0.455357/51 (SGDP_PRJ)
    G=0.5/5 (Siberian)
    HGVS:
    NC_000008.11:g.18400860G>A, NC_000008.10:g.18258370G>A, NG_012246.1:g.14616G>A, NM_000015.3:c.857G>A, NM_000015.2:c.857G>A, XM_017012938.1:c.857G>A, NP_000006.2:p.Gly286Glu, XP_016868427.1:p.Gly286Glu
    2.

    rs58803786 has merged into rs1799931 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      8:18400860 (GRCh38)
      8:18258370 (GRCh37)
      Gene:
      NAT2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      drug-response
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.03171/5028 (ALFA)
      A=0.01/6 (NorthernSweden)
      A=0.014981/8 (MGP)
      A=0.01972/76 (ALSPAC)
      A=0.022654/84 (TWINSUK)
      A=0.025/1 (GENOME_DK)
      A=0.02505/25 (GoNL)
      A=0.032407/7 (Qatari)
      A=0.036184/11 (FINRISK)
      A=0.041314/1297 (GnomAD)
      A=0.043379/5447 (TOPMED)
      A=0.044014/50 (Daghestan)
      A=0.044196/198 (Estonian)
      A=0.055273/6140 (ExAC)
      A=0.057573/13017 (GnomAD_exomes)
      A=0.058855/111 (HapMap)
      A=0.069416/5463 (PAGE_STUDY)
      A=0.077276/387 (1000Genomes)
      A=0.08427/30 (PharmGKB)
      A=0.125939/369 (KOREAN)
      A=0.136463/250 (Korea1K)
      A=0.155993/95 (Vietnamese)
      G=0.455357/51 (SGDP_PRJ)
      G=0.5/5 (Siberian)
      HGVS:
      NC_000008.11:g.18400860G>A, NC_000008.10:g.18258370G>A, NG_012246.1:g.14616G>A, NM_000015.3:c.857G>A, NM_000015.2:c.857G>A, XM_017012938.1:c.857G>A, NP_000006.2:p.Gly286Glu, XP_016868427.1:p.Gly286Glu
      3.

      rs52802193 has merged into rs1799931 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        8:18400860 (GRCh38)
        8:18258370 (GRCh37)
        Gene:
        NAT2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        drug-response
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.03171/5028 (ALFA)
        A=0.01/6 (NorthernSweden)
        A=0.014981/8 (MGP)
        A=0.01972/76 (ALSPAC)
        A=0.022654/84 (TWINSUK)
        A=0.025/1 (GENOME_DK)
        A=0.02505/25 (GoNL)
        A=0.032407/7 (Qatari)
        A=0.036184/11 (FINRISK)
        A=0.041314/1297 (GnomAD)
        A=0.043379/5447 (TOPMED)
        A=0.044014/50 (Daghestan)
        A=0.044196/198 (Estonian)
        A=0.055273/6140 (ExAC)
        A=0.057573/13017 (GnomAD_exomes)
        A=0.058855/111 (HapMap)
        A=0.069416/5463 (PAGE_STUDY)
        A=0.077276/387 (1000Genomes)
        A=0.08427/30 (PharmGKB)
        A=0.125939/369 (KOREAN)
        A=0.136463/250 (Korea1K)
        A=0.155993/95 (Vietnamese)
        G=0.455357/51 (SGDP_PRJ)
        G=0.5/5 (Siberian)
        HGVS:
        NC_000008.11:g.18400860G>A, NC_000008.10:g.18258370G>A, NG_012246.1:g.14616G>A, NM_000015.3:c.857G>A, NM_000015.2:c.857G>A, XM_017012938.1:c.857G>A, NP_000006.2:p.Gly286Glu, XP_016868427.1:p.Gly286Glu
        4.

        rs17693862 has merged into rs1799931 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:18400860 (GRCh38)
          8:18258370 (GRCh37)
          Gene:
          NAT2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          drug-response
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.03171/5028 (ALFA)
          A=0.01/6 (NorthernSweden)
          A=0.014981/8 (MGP)
          A=0.01972/76 (ALSPAC)
          A=0.022654/84 (TWINSUK)
          A=0.025/1 (GENOME_DK)
          A=0.02505/25 (GoNL)
          A=0.032407/7 (Qatari)
          A=0.036184/11 (FINRISK)
          A=0.041314/1297 (GnomAD)
          A=0.043379/5447 (TOPMED)
          A=0.044014/50 (Daghestan)
          A=0.044196/198 (Estonian)
          A=0.055273/6140 (ExAC)
          A=0.057573/13017 (GnomAD_exomes)
          A=0.058855/111 (HapMap)
          A=0.069416/5463 (PAGE_STUDY)
          A=0.077276/387 (1000Genomes)
          A=0.08427/30 (PharmGKB)
          A=0.125939/369 (KOREAN)
          A=0.136463/250 (Korea1K)
          A=0.155993/95 (Vietnamese)
          G=0.455357/51 (SGDP_PRJ)
          G=0.5/5 (Siberian)
          HGVS:
          NC_000008.11:g.18400860G>A, NC_000008.10:g.18258370G>A, NG_012246.1:g.14616G>A, NM_000015.3:c.857G>A, NM_000015.2:c.857G>A, XM_017012938.1:c.857G>A, NP_000006.2:p.Gly286Glu, XP_016868427.1:p.Gly286Glu
          5.

          rs4646270 has merged into rs1799931 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:18400860 (GRCh38)
            8:18258370 (GRCh37)
            Gene:
            NAT2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Clinical significance:
            drug-response
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.03171/5028 (ALFA)
            A=0.01/6 (NorthernSweden)
            A=0.014981/8 (MGP)
            A=0.01972/76 (ALSPAC)
            A=0.022654/84 (TWINSUK)
            A=0.025/1 (GENOME_DK)
            A=0.02505/25 (GoNL)
            A=0.032407/7 (Qatari)
            A=0.036184/11 (FINRISK)
            A=0.041314/1297 (GnomAD)
            A=0.043379/5447 (TOPMED)
            A=0.044014/50 (Daghestan)
            A=0.044196/198 (Estonian)
            A=0.055273/6140 (ExAC)
            A=0.057573/13017 (GnomAD_exomes)
            A=0.058855/111 (HapMap)
            A=0.069416/5463 (PAGE_STUDY)
            A=0.077276/387 (1000Genomes)
            A=0.08427/30 (PharmGKB)
            A=0.125939/369 (KOREAN)
            A=0.136463/250 (Korea1K)
            A=0.155993/95 (Vietnamese)
            G=0.455357/51 (SGDP_PRJ)
            G=0.5/5 (Siberian)
            HGVS:
            NC_000008.11:g.18400860G>A, NC_000008.10:g.18258370G>A, NG_012246.1:g.14616G>A, NM_000015.3:c.857G>A, NM_000015.2:c.857G>A, XM_017012938.1:c.857G>A, NP_000006.2:p.Gly286Glu, XP_016868427.1:p.Gly286Glu

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