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Items: 8

1.

rs1208 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C,T [Show Flanks]
    Chromosome:
    8:18400806 (GRCh38)
    8:18258316 (GRCh37)
    Gene:
    NAT2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Clinical significance:
    drug-response
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.42494/45200 (ALFA)
    G=0.02116/62 (KOREAN)
    G=0.022926/42 (Korea1K)
    G=0.074675/46 (Vietnamese)
    G=0.200422/95 (SGDP_PRJ)
    G=0.202857/71 (PharmGKB)
    G=0.322883/1617 (1000Genomes)
    G=0.323417/674 (HGDP_Stanford)
    G=0.325/13 (GENOME_DK)
    G=0.338812/639 (HapMap)
    G=0.33942/26711 (PAGE_STUDY)
    G=0.382796/45862 (ExAC)
    G=0.385074/48353 (TOPMED)
    G=0.386364/17 (Siberian)
    G=0.400581/12539 (GnomAD)
    G=0.419305/1616 (ALSPAC)
    G=0.428263/1588 (TWINSUK)
    G=0.4375/133 (FINRISK)
    G=0.441884/441 (GoNL)
    A=0.44382/237 (MGP)
    G=0.45/270 (NorthernSweden)
    G=0.450446/2018 (Estonian)
    A=0.486111/105 (Qatari)
    HGVS:
    NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile
    2.

    rs58999469 has merged into rs1208 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C,T [Show Flanks]
      Chromosome:
      8:18400806 (GRCh38)
      8:18258316 (GRCh37)
      Gene:
      NAT2 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Clinical significance:
      drug-response
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.42494/45200 (ALFA)
      G=0.02116/62 (KOREAN)
      G=0.022926/42 (Korea1K)
      G=0.074675/46 (Vietnamese)
      G=0.200422/95 (SGDP_PRJ)
      G=0.202857/71 (PharmGKB)
      G=0.322883/1617 (1000Genomes)
      G=0.323417/674 (HGDP_Stanford)
      G=0.325/13 (GENOME_DK)
      G=0.338812/639 (HapMap)
      G=0.33942/26711 (PAGE_STUDY)
      G=0.382796/45862 (ExAC)
      G=0.385074/48353 (TOPMED)
      G=0.386364/17 (Siberian)
      G=0.400581/12539 (GnomAD)
      G=0.419305/1616 (ALSPAC)
      G=0.428263/1588 (TWINSUK)
      G=0.4375/133 (FINRISK)
      G=0.441884/441 (GoNL)
      A=0.44382/237 (MGP)
      G=0.45/270 (NorthernSweden)
      G=0.450446/2018 (Estonian)
      A=0.486111/105 (Qatari)
      HGVS:
      NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile
      3.

      rs56599719 has merged into rs1208 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        8:18400806 (GRCh38)
        8:18258316 (GRCh37)
        Gene:
        NAT2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        drug-response
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.42494/45200 (ALFA)
        G=0.02116/62 (KOREAN)
        G=0.022926/42 (Korea1K)
        G=0.074675/46 (Vietnamese)
        G=0.200422/95 (SGDP_PRJ)
        G=0.202857/71 (PharmGKB)
        G=0.322883/1617 (1000Genomes)
        G=0.323417/674 (HGDP_Stanford)
        G=0.325/13 (GENOME_DK)
        G=0.338812/639 (HapMap)
        G=0.33942/26711 (PAGE_STUDY)
        G=0.382796/45862 (ExAC)
        G=0.385074/48353 (TOPMED)
        G=0.386364/17 (Siberian)
        G=0.400581/12539 (GnomAD)
        G=0.419305/1616 (ALSPAC)
        G=0.428263/1588 (TWINSUK)
        G=0.4375/133 (FINRISK)
        G=0.441884/441 (GoNL)
        A=0.44382/237 (MGP)
        G=0.45/270 (NorthernSweden)
        G=0.450446/2018 (Estonian)
        A=0.486111/105 (Qatari)
        HGVS:
        NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile
        4.

        rs52821724 has merged into rs1208 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          8:18400806 (GRCh38)
          8:18258316 (GRCh37)
          Gene:
          NAT2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          drug-response
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.42494/45200 (ALFA)
          G=0.02116/62 (KOREAN)
          G=0.022926/42 (Korea1K)
          G=0.074675/46 (Vietnamese)
          G=0.200422/95 (SGDP_PRJ)
          G=0.202857/71 (PharmGKB)
          G=0.322883/1617 (1000Genomes)
          G=0.323417/674 (HGDP_Stanford)
          G=0.325/13 (GENOME_DK)
          G=0.338812/639 (HapMap)
          G=0.33942/26711 (PAGE_STUDY)
          G=0.382796/45862 (ExAC)
          G=0.385074/48353 (TOPMED)
          G=0.386364/17 (Siberian)
          G=0.400581/12539 (GnomAD)
          G=0.419305/1616 (ALSPAC)
          G=0.428263/1588 (TWINSUK)
          G=0.4375/133 (FINRISK)
          G=0.441884/441 (GoNL)
          A=0.44382/237 (MGP)
          G=0.45/270 (NorthernSweden)
          G=0.450446/2018 (Estonian)
          A=0.486111/105 (Qatari)
          HGVS:
          NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile
          5.

          rs17858365 has merged into rs1208 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C,T [Show Flanks]
            Chromosome:
            8:18400806 (GRCh38)
            8:18258316 (GRCh37)
            Gene:
            NAT2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Clinical significance:
            drug-response
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.42494/45200 (ALFA)
            G=0.02116/62 (KOREAN)
            G=0.022926/42 (Korea1K)
            G=0.074675/46 (Vietnamese)
            G=0.200422/95 (SGDP_PRJ)
            G=0.202857/71 (PharmGKB)
            G=0.322883/1617 (1000Genomes)
            G=0.323417/674 (HGDP_Stanford)
            G=0.325/13 (GENOME_DK)
            G=0.338812/639 (HapMap)
            G=0.33942/26711 (PAGE_STUDY)
            G=0.382796/45862 (ExAC)
            G=0.385074/48353 (TOPMED)
            G=0.386364/17 (Siberian)
            G=0.400581/12539 (GnomAD)
            G=0.419305/1616 (ALSPAC)
            G=0.428263/1588 (TWINSUK)
            G=0.4375/133 (FINRISK)
            G=0.441884/441 (GoNL)
            A=0.44382/237 (MGP)
            G=0.45/270 (NorthernSweden)
            G=0.450446/2018 (Estonian)
            A=0.486111/105 (Qatari)
            HGVS:
            NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile
            6.

            rs17845485 has merged into rs1208 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              8:18400806 (GRCh38)
              8:18258316 (GRCh37)
              Gene:
              NAT2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              drug-response
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.42494/45200 (ALFA)
              G=0.02116/62 (KOREAN)
              G=0.022926/42 (Korea1K)
              G=0.074675/46 (Vietnamese)
              G=0.200422/95 (SGDP_PRJ)
              G=0.202857/71 (PharmGKB)
              G=0.322883/1617 (1000Genomes)
              G=0.323417/674 (HGDP_Stanford)
              G=0.325/13 (GENOME_DK)
              G=0.338812/639 (HapMap)
              G=0.33942/26711 (PAGE_STUDY)
              G=0.382796/45862 (ExAC)
              G=0.385074/48353 (TOPMED)
              G=0.386364/17 (Siberian)
              G=0.400581/12539 (GnomAD)
              G=0.419305/1616 (ALSPAC)
              G=0.428263/1588 (TWINSUK)
              G=0.4375/133 (FINRISK)
              G=0.441884/441 (GoNL)
              A=0.44382/237 (MGP)
              G=0.45/270 (NorthernSweden)
              G=0.450446/2018 (Estonian)
              A=0.486111/105 (Qatari)
              HGVS:
              NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile
              7.

              rs17126586 has merged into rs1208 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                8:18400806 (GRCh38)
                8:18258316 (GRCh37)
                Gene:
                NAT2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Clinical significance:
                drug-response
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.42494/45200 (ALFA)
                G=0.02116/62 (KOREAN)
                G=0.022926/42 (Korea1K)
                G=0.074675/46 (Vietnamese)
                G=0.200422/95 (SGDP_PRJ)
                G=0.202857/71 (PharmGKB)
                G=0.322883/1617 (1000Genomes)
                G=0.323417/674 (HGDP_Stanford)
                G=0.325/13 (GENOME_DK)
                G=0.338812/639 (HapMap)
                G=0.33942/26711 (PAGE_STUDY)
                G=0.382796/45862 (ExAC)
                G=0.385074/48353 (TOPMED)
                G=0.386364/17 (Siberian)
                G=0.400581/12539 (GnomAD)
                G=0.419305/1616 (ALSPAC)
                G=0.428263/1588 (TWINSUK)
                G=0.4375/133 (FINRISK)
                G=0.441884/441 (GoNL)
                A=0.44382/237 (MGP)
                G=0.45/270 (NorthernSweden)
                G=0.450446/2018 (Estonian)
                A=0.486111/105 (Qatari)
                HGVS:
                NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile
                8.

                rs3181478 has merged into rs1208 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  8:18400806 (GRCh38)
                  8:18258316 (GRCh37)
                  Gene:
                  NAT2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Clinical significance:
                  drug-response
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.42494/45200 (ALFA)
                  G=0.02116/62 (KOREAN)
                  G=0.022926/42 (Korea1K)
                  G=0.074675/46 (Vietnamese)
                  G=0.200422/95 (SGDP_PRJ)
                  G=0.202857/71 (PharmGKB)
                  G=0.322883/1617 (1000Genomes)
                  G=0.323417/674 (HGDP_Stanford)
                  G=0.325/13 (GENOME_DK)
                  G=0.338812/639 (HapMap)
                  G=0.33942/26711 (PAGE_STUDY)
                  G=0.382796/45862 (ExAC)
                  G=0.385074/48353 (TOPMED)
                  G=0.386364/17 (Siberian)
                  G=0.400581/12539 (GnomAD)
                  G=0.419305/1616 (ALSPAC)
                  G=0.428263/1588 (TWINSUK)
                  G=0.4375/133 (FINRISK)
                  G=0.441884/441 (GoNL)
                  A=0.44382/237 (MGP)
                  G=0.45/270 (NorthernSweden)
                  G=0.450446/2018 (Estonian)
                  A=0.486111/105 (Qatari)
                  HGVS:
                  NC_000008.11:g.18400806G>A, NC_000008.11:g.18400806G>C, NC_000008.11:g.18400806G>T, NC_000008.10:g.18258316G>A, NC_000008.10:g.18258316G>C, NC_000008.10:g.18258316G>T, NG_012246.1:g.14562G>A, NG_012246.1:g.14562G>C, NG_012246.1:g.14562G>T, NM_000015.3:c.803G>A, NM_000015.3:c.803G>C, NM_000015.3:c.803G>T, NM_000015.2:c.803G>A, NM_000015.2:c.803G>C, NM_000015.2:c.803G>T, XM_017012938.1:c.803G>A, XM_017012938.1:c.803G>C, XM_017012938.1:c.803G>T, NP_000006.2:p.Arg268Lys, NP_000006.2:p.Arg268Thr, NP_000006.2:p.Arg268Ile, XP_016868427.1:p.Arg268Lys, XP_016868427.1:p.Arg268Thr, XP_016868427.1:p.Arg268Ile

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