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Items: 6

1.

rs1633010 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,T [Show Flanks]
    Chromosome:
    6:29795165 (GRCh38)
    6:29762942 (GRCh37)
    Canonical SPDI:
    NC_000006.12:29795164:A:C,NC_000006.12:29795164:A:T
    Gene:
    HLA-V (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.368758/6159 (ALFA)
    T=0.25/150 (NorthernSweden)
    T=0.297933/4993 (TOMMO)
    T=0.29933/1341 (Estonian)
    T=0.307473/1185 (ALSPAC)
    T=0.3157/925 (KOREAN)
    T=0.324973/1205 (TWINSUK)
    T=0.325651/325 (GoNL)
    T=0.347222/75 (Qatari)
    A=0.366438/107 (SGDP_PRJ)
    T=0.374297/1874 (1000Genomes)
    T=0.375/15 (GENOME_DK)
    T=0.387637/51110 (GnomAD)
    A=0.404762/17 (Siberian)
    T=0.440625/141 (HapMap)
    HGVS:
    NC_000006.12:g.29795165A>C, NC_000006.12:g.29795165A>T, NC_000006.11:g.29762942A>C, NC_000006.11:g.29762942A>T, NT_113891.3:g.1278928T>A, NT_113891.3:g.1278928T>C, NT_113891.2:g.1279034T>A, NT_113891.2:g.1279034T>C, NT_167248.2:g.1058130T>A, NT_167248.2:g.1058130T>C, NT_167248.1:g.1063726T>A, NT_167248.1:g.1063726T>C, NT_167245.2:g.1058149A>C, NT_167245.2:g.1058149A>T, NT_167245.1:g.1063734A>C, NT_167245.1:g.1063734A>T, NT_167249.2:g.1101316A>C, NT_167249.2:g.1101316A>T, NT_167249.1:g.1100614A>C, NT_167249.1:g.1100614A>T, NT_167246.2:g.1057741A>C, NT_167246.2:g.1057741A>T, NT_167246.1:g.1063361A>C, NT_167246.1:g.1063361A>T, NT_167247.2:g.1057815A>C, NT_167247.2:g.1057815A>T, NT_167247.1:g.1063400A>C, NT_167247.1:g.1063400A>T, NT_167244.2:g.1060978T>A, NT_167244.2:g.1060978T>C, NW_003871063.1:g.37155T>A, NW_003871063.1:g.37155T>C, NT_167244.1:g.1066572T>A, NT_167244.1:g.1066572T>C
    2.

    rs114834600 has merged into rs1633010 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,T [Show Flanks]
      Chromosome:
      6:29795165 (GRCh38)
      6:29762942 (GRCh37)
      Canonical SPDI:
      NC_000006.12:29795164:A:C,NC_000006.12:29795164:A:T
      Gene:
      HLA-V (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.368758/6159 (ALFA)
      T=0.25/150 (NorthernSweden)
      T=0.297933/4993 (TOMMO)
      T=0.29933/1341 (Estonian)
      T=0.307473/1185 (ALSPAC)
      T=0.3157/925 (KOREAN)
      T=0.324973/1205 (TWINSUK)
      T=0.325651/325 (GoNL)
      T=0.347222/75 (Qatari)
      A=0.366438/107 (SGDP_PRJ)
      T=0.374297/1874 (1000Genomes)
      T=0.375/15 (GENOME_DK)
      T=0.387637/51110 (GnomAD)
      A=0.404762/17 (Siberian)
      T=0.440625/141 (HapMap)
      HGVS:
      NC_000006.12:g.29795165A>C, NC_000006.12:g.29795165A>T, NC_000006.11:g.29762942A>C, NC_000006.11:g.29762942A>T, NT_113891.3:g.1278928T>A, NT_113891.3:g.1278928T>C, NT_113891.2:g.1279034T>A, NT_113891.2:g.1279034T>C, NT_167248.2:g.1058130T>A, NT_167248.2:g.1058130T>C, NT_167248.1:g.1063726T>A, NT_167248.1:g.1063726T>C, NT_167245.2:g.1058149A>C, NT_167245.2:g.1058149A>T, NT_167245.1:g.1063734A>C, NT_167245.1:g.1063734A>T, NT_167249.2:g.1101316A>C, NT_167249.2:g.1101316A>T, NT_167249.1:g.1100614A>C, NT_167249.1:g.1100614A>T, NT_167246.2:g.1057741A>C, NT_167246.2:g.1057741A>T, NT_167246.1:g.1063361A>C, NT_167246.1:g.1063361A>T, NT_167247.2:g.1057815A>C, NT_167247.2:g.1057815A>T, NT_167247.1:g.1063400A>C, NT_167247.1:g.1063400A>T, NT_167244.2:g.1060978T>A, NT_167244.2:g.1060978T>C, NW_003871063.1:g.37155T>A, NW_003871063.1:g.37155T>C, NT_167244.1:g.1066572T>A, NT_167244.1:g.1066572T>C
      3.

      rs72507837 has merged into rs1633010 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,T [Show Flanks]
        Chromosome:
        6:29795165 (GRCh38)
        6:29762942 (GRCh37)
        Canonical SPDI:
        NC_000006.12:29795164:A:C,NC_000006.12:29795164:A:T
        Gene:
        HLA-V (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.368758/6159 (ALFA)
        T=0.25/150 (NorthernSweden)
        T=0.297933/4993 (TOMMO)
        T=0.29933/1341 (Estonian)
        T=0.307473/1185 (ALSPAC)
        T=0.3157/925 (KOREAN)
        T=0.324973/1205 (TWINSUK)
        T=0.325651/325 (GoNL)
        T=0.347222/75 (Qatari)
        A=0.366438/107 (SGDP_PRJ)
        T=0.374297/1874 (1000Genomes)
        T=0.375/15 (GENOME_DK)
        T=0.387637/51110 (GnomAD)
        A=0.404762/17 (Siberian)
        T=0.440625/141 (HapMap)
        HGVS:
        NC_000006.12:g.29795165A>C, NC_000006.12:g.29795165A>T, NC_000006.11:g.29762942A>C, NC_000006.11:g.29762942A>T, NT_113891.3:g.1278928T>A, NT_113891.3:g.1278928T>C, NT_113891.2:g.1279034T>A, NT_113891.2:g.1279034T>C, NT_167248.2:g.1058130T>A, NT_167248.2:g.1058130T>C, NT_167248.1:g.1063726T>A, NT_167248.1:g.1063726T>C, NT_167245.2:g.1058149A>C, NT_167245.2:g.1058149A>T, NT_167245.1:g.1063734A>C, NT_167245.1:g.1063734A>T, NT_167249.2:g.1101316A>C, NT_167249.2:g.1101316A>T, NT_167249.1:g.1100614A>C, NT_167249.1:g.1100614A>T, NT_167246.2:g.1057741A>C, NT_167246.2:g.1057741A>T, NT_167246.1:g.1063361A>C, NT_167246.1:g.1063361A>T, NT_167247.2:g.1057815A>C, NT_167247.2:g.1057815A>T, NT_167247.1:g.1063400A>C, NT_167247.1:g.1063400A>T, NT_167244.2:g.1060978T>A, NT_167244.2:g.1060978T>C, NW_003871063.1:g.37155T>A, NW_003871063.1:g.37155T>C, NT_167244.1:g.1066572T>A, NT_167244.1:g.1066572T>C
        4.

        rs58965714 has merged into rs1633010 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,T [Show Flanks]
          Chromosome:
          6:29795165 (GRCh38)
          6:29762942 (GRCh37)
          Canonical SPDI:
          NC_000006.12:29795164:A:C,NC_000006.12:29795164:A:T
          Gene:
          HLA-V (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.368758/6159 (ALFA)
          T=0.25/150 (NorthernSweden)
          T=0.297933/4993 (TOMMO)
          T=0.29933/1341 (Estonian)
          T=0.307473/1185 (ALSPAC)
          T=0.3157/925 (KOREAN)
          T=0.324973/1205 (TWINSUK)
          T=0.325651/325 (GoNL)
          T=0.347222/75 (Qatari)
          A=0.366438/107 (SGDP_PRJ)
          T=0.374297/1874 (1000Genomes)
          T=0.375/15 (GENOME_DK)
          T=0.387637/51110 (GnomAD)
          A=0.404762/17 (Siberian)
          T=0.440625/141 (HapMap)
          HGVS:
          NC_000006.12:g.29795165A>C, NC_000006.12:g.29795165A>T, NC_000006.11:g.29762942A>C, NC_000006.11:g.29762942A>T, NT_113891.3:g.1278928T>A, NT_113891.3:g.1278928T>C, NT_113891.2:g.1279034T>A, NT_113891.2:g.1279034T>C, NT_167248.2:g.1058130T>A, NT_167248.2:g.1058130T>C, NT_167248.1:g.1063726T>A, NT_167248.1:g.1063726T>C, NT_167245.2:g.1058149A>C, NT_167245.2:g.1058149A>T, NT_167245.1:g.1063734A>C, NT_167245.1:g.1063734A>T, NT_167249.2:g.1101316A>C, NT_167249.2:g.1101316A>T, NT_167249.1:g.1100614A>C, NT_167249.1:g.1100614A>T, NT_167246.2:g.1057741A>C, NT_167246.2:g.1057741A>T, NT_167246.1:g.1063361A>C, NT_167246.1:g.1063361A>T, NT_167247.2:g.1057815A>C, NT_167247.2:g.1057815A>T, NT_167247.1:g.1063400A>C, NT_167247.1:g.1063400A>T, NT_167244.2:g.1060978T>A, NT_167244.2:g.1060978T>C, NW_003871063.1:g.37155T>A, NW_003871063.1:g.37155T>C, NT_167244.1:g.1066572T>A, NT_167244.1:g.1066572T>C
          5.

          rs34505932 has merged into rs1633010 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            6:29795165 (GRCh38)
            6:29762942 (GRCh37)
            Canonical SPDI:
            NC_000006.12:29795164:A:C,NC_000006.12:29795164:A:T
            Gene:
            HLA-V (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.368758/6159 (ALFA)
            T=0.25/150 (NorthernSweden)
            T=0.297933/4993 (TOMMO)
            T=0.29933/1341 (Estonian)
            T=0.307473/1185 (ALSPAC)
            T=0.3157/925 (KOREAN)
            T=0.324973/1205 (TWINSUK)
            T=0.325651/325 (GoNL)
            T=0.347222/75 (Qatari)
            A=0.366438/107 (SGDP_PRJ)
            T=0.374297/1874 (1000Genomes)
            T=0.375/15 (GENOME_DK)
            T=0.387637/51110 (GnomAD)
            A=0.404762/17 (Siberian)
            T=0.440625/141 (HapMap)
            HGVS:
            NC_000006.12:g.29795165A>C, NC_000006.12:g.29795165A>T, NC_000006.11:g.29762942A>C, NC_000006.11:g.29762942A>T, NT_113891.3:g.1278928T>A, NT_113891.3:g.1278928T>C, NT_113891.2:g.1279034T>A, NT_113891.2:g.1279034T>C, NT_167248.2:g.1058130T>A, NT_167248.2:g.1058130T>C, NT_167248.1:g.1063726T>A, NT_167248.1:g.1063726T>C, NT_167245.2:g.1058149A>C, NT_167245.2:g.1058149A>T, NT_167245.1:g.1063734A>C, NT_167245.1:g.1063734A>T, NT_167249.2:g.1101316A>C, NT_167249.2:g.1101316A>T, NT_167249.1:g.1100614A>C, NT_167249.1:g.1100614A>T, NT_167246.2:g.1057741A>C, NT_167246.2:g.1057741A>T, NT_167246.1:g.1063361A>C, NT_167246.1:g.1063361A>T, NT_167247.2:g.1057815A>C, NT_167247.2:g.1057815A>T, NT_167247.1:g.1063400A>C, NT_167247.1:g.1063400A>T, NT_167244.2:g.1060978T>A, NT_167244.2:g.1060978T>C, NW_003871063.1:g.37155T>A, NW_003871063.1:g.37155T>C, NT_167244.1:g.1066572T>A, NT_167244.1:g.1066572T>C
            6.

            rs13201295 has merged into rs1633010 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,T [Show Flanks]
              Chromosome:
              6:29795165 (GRCh38)
              6:29762942 (GRCh37)
              Canonical SPDI:
              NC_000006.12:29795164:A:C,NC_000006.12:29795164:A:T
              Gene:
              HLA-V (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.368758/6159 (ALFA)
              T=0.25/150 (NorthernSweden)
              T=0.297933/4993 (TOMMO)
              T=0.29933/1341 (Estonian)
              T=0.307473/1185 (ALSPAC)
              T=0.3157/925 (KOREAN)
              T=0.324973/1205 (TWINSUK)
              T=0.325651/325 (GoNL)
              T=0.347222/75 (Qatari)
              A=0.366438/107 (SGDP_PRJ)
              T=0.374297/1874 (1000Genomes)
              T=0.375/15 (GENOME_DK)
              T=0.387637/51110 (GnomAD)
              A=0.404762/17 (Siberian)
              T=0.440625/141 (HapMap)
              HGVS:
              NC_000006.12:g.29795165A>C, NC_000006.12:g.29795165A>T, NC_000006.11:g.29762942A>C, NC_000006.11:g.29762942A>T, NT_113891.3:g.1278928T>A, NT_113891.3:g.1278928T>C, NT_113891.2:g.1279034T>A, NT_113891.2:g.1279034T>C, NT_167248.2:g.1058130T>A, NT_167248.2:g.1058130T>C, NT_167248.1:g.1063726T>A, NT_167248.1:g.1063726T>C, NT_167245.2:g.1058149A>C, NT_167245.2:g.1058149A>T, NT_167245.1:g.1063734A>C, NT_167245.1:g.1063734A>T, NT_167249.2:g.1101316A>C, NT_167249.2:g.1101316A>T, NT_167249.1:g.1100614A>C, NT_167249.1:g.1100614A>T, NT_167246.2:g.1057741A>C, NT_167246.2:g.1057741A>T, NT_167246.1:g.1063361A>C, NT_167246.1:g.1063361A>T, NT_167247.2:g.1057815A>C, NT_167247.2:g.1057815A>T, NT_167247.1:g.1063400A>C, NT_167247.1:g.1063400A>T, NT_167244.2:g.1060978T>A, NT_167244.2:g.1060978T>C, NW_003871063.1:g.37155T>A, NW_003871063.1:g.37155T>C, NT_167244.1:g.1066572T>A, NT_167244.1:g.1066572T>C

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