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Links from Nucleotide

Items: 1 to 20 of 23

1.

rs1434920325 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    9:124693740 (GRCh38)
    9:127456019 (GRCh37)
    Canonical SPDI:
    NC_000009.12:124693739:C:A,NC_000009.12:124693739:C:T
    Gene:
    NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000035/1 (TOMMO)
    HGVS:
    2.

    rs1403585456 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:124693710 (GRCh38)
      9:127455989 (GRCh37)
      Canonical SPDI:
      NC_000009.12:124693709:C:T
      Gene:
      NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      T=0.00006/1 (TOMMO)
      HGVS:
      3.

      rs1373715599 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:124693750 (GRCh38)
        9:127456029 (GRCh37)
        Canonical SPDI:
        NC_000009.12:124693749:G:A
        Gene:
        NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1372719475 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          9:124693774 (GRCh38)
          9:127456053 (GRCh37)
          Canonical SPDI:
          NC_000009.12:124693773:A:G
          Gene:
          NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1351686016 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            9:124693736 (GRCh38)
            9:127456015 (GRCh37)
            Canonical SPDI:
            NC_000009.12:124693735:C:G,NC_000009.12:124693735:C:T
            Gene:
            NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1215531255 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              9:124693785 (GRCh38)
              9:127456064 (GRCh37)
              Canonical SPDI:
              NC_000009.12:124693784:C:G
              Gene:
              NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.00004/1 (TOMMO)
              HGVS:
              7.

              rs1166613927 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                9:124693723 (GRCh38)
                9:127456002 (GRCh37)
                Canonical SPDI:
                NC_000009.12:124693722:T:G
                Gene:
                NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1032259177 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  9:124693754 (GRCh38)
                  9:127456033 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:124693753:C:G
                  Gene:
                  NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  HGVS:
                  9.

                  rs1021938856 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:124693711 (GRCh38)
                    9:127455990 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:124693710:T:C
                    Gene:
                    NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                    HGVS:
                    10.

                    rs954897913 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      9:124693755 (GRCh38)
                      9:127456034 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:124693754:T:A
                      Gene:
                      NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs781260008 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        9:124693757 (GRCh38)
                        9:127456036 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:124693756:A:T
                        Gene:
                        NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.000008/1 (ExAC)
                        HGVS:
                        12.

                        rs765712905 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          9:124693731 (GRCh38)
                          9:127456010 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:124693730:C:G,NC_000009.12:124693730:C:T
                          Gene:
                          NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs762676586 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            9:124693775 (GRCh38)
                            9:127456054 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:124693774:T:C
                            Gene:
                            NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000031/1 (ALFA)
                            C=0.000008/2 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            C=0.000032/8 (GnomAD_exomes)
                            C=0.000052/6 (ExAC)
                            HGVS:
                            14.

                            rs758726581 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:124693733 (GRCh38)
                              9:127456012 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:124693732:T:C
                              Gene:
                              NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000008/2 (GnomAD_exomes)
                              C=0.000017/2 (ExAC)
                              HGVS:
                              15.

                              rs754985289 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                9:124693743 (GRCh38)
                                9:127456022 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:124693742:T:C
                                Gene:
                                NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000087/2 (ALFA)
                                C=0.000015/4 (TOPMED)
                                C=0.000025/3 (ExAC)
                                C=0.000052/13 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs556757681 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:124693732 (GRCh38)
                                  9:127456011 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:124693731:A:G
                                  Gene:
                                  NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  G=0.001002/1 (GoNL)
                                  HGVS:
                                  17.

                                  rs556435419 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    9:124693788 (GRCh38)
                                    9:127456067 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:124693787:C:A,NC_000009.12:124693787:C:T
                                    Gene:
                                    NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000047/1 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    T=0.000009/1 (ExAC)
                                    T=0.000312/2 (1000Genomes)
                                    HGVS:
                                    18.

                                    rs543189963 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:124693741 (GRCh38)
                                      9:127456020 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:124693740:G:A
                                      Gene:
                                      NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000017/2 (ExAC)
                                      A=0.000032/8 (GnomAD_exomes)
                                      A=0.000156/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs536185310 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:124693763 (GRCh38)
                                        9:127456042 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:124693762:C:T
                                        Gene:
                                        NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.0002/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs374759520 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,T [Show Flanks]
                                          Chromosome:
                                          9:124693784 (GRCh38)
                                          9:127456063 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:124693783:A:C,NC_000009.12:124693783:A:T
                                          Gene:
                                          NR6A1 (Varview), MIR181B2 (Varview), MIR181A2HG (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000214/3 (ALFA)
                                          C=0.000062/7 (ExAC)
                                          C=0.00025/35 (GnomAD)
                                          C=0.000257/68 (TOPMED)
                                          C=0.000291/3 (GoESP)
                                          HGVS:

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