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Links from Nucleotide

Items: 1 to 20 of 23

1.

rs1437563144 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    20:62564997 (GRCh38)
    20:61162204 (GRCh37)
    Canonical SPDI:
    NC_000020.11:62564996:G:A
    Gene:
    MIR1-1HG (Varview), MIR133A2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1370376052 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      20:62564939 (GRCh38)
      20:61162146 (GRCh37)
      Canonical SPDI:
      NC_000020.11:62564938:T:C
      Gene:
      MIR1-1HG (Varview), MIR133A2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1282537249 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        20:62564933 (GRCh38)
        20:61162140 (GRCh37)
        Canonical SPDI:
        NC_000020.11:62564932:A:G
        Gene:
        MIR1-1HG (Varview), MIR133A2 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1235164607 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          20:62564935 (GRCh38)
          20:61162142 (GRCh37)
          Canonical SPDI:
          NC_000020.11:62564934:C:T
          Gene:
          MIR1-1HG (Varview), MIR133A2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1215697211 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            20:62564914 (GRCh38)
            20:61162121 (GRCh37)
            Canonical SPDI:
            NC_000020.11:62564913:G:C
            Gene:
            MIR1-1HG (Varview), MIR133A2 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000014/2 (GnomAD)
            C=0.000014/3 (GnomAD_exomes)
            C=0.000042/11 (TOPMED)
            HGVS:
            6.

            rs1024828602 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              20:62564958 (GRCh38)
              20:61162165 (GRCh37)
              Canonical SPDI:
              NC_000020.11:62564957:C:G,NC_000020.11:62564957:C:T
              Gene:
              MIR1-1HG (Varview), MIR133A2 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              7.

              rs782792513 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                20:62564999 (GRCh38)
                20:61162206 (GRCh37)
                Canonical SPDI:
                NC_000020.11:62564998:G:T
                Gene:
                MIR1-1HG (Varview), MIR133A2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                T=0.000011/1 (ExAC)
                HGVS:
                8.

                rs782542471 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  20:62565013 (GRCh38)
                  20:61162220 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:62565012:G:A,NC_000020.11:62565012:G:C,NC_000020.11:62565012:G:T
                  Gene:
                  MIR1-1HG (Varview), MIR133A2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.001092/2 (Korea1K)
                  A=0.002477/42 (TOMMO)
                  A=0.002738/8 (KOREAN)
                  HGVS:
                  9.

                  rs782309448 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    20:62565008 (GRCh38)
                    20:61162215 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:62565007:G:C
                    Gene:
                    MIR1-1HG (Varview), MIR133A2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0./0 (TWINSUK)
                    C=0.0003/1 (ALSPAC)
                    HGVS:
                    10.

                    rs782172092 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      20:62564995 (GRCh38)
                      20:61162202 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:62564994:C:T
                      Gene:
                      MIR1-1HG (Varview), MIR133A2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000011/1 (ExAC)
                      T=0.000016/4 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs782105206 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        20:62565002 (GRCh38)
                        20:61162209 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:62565001:T:C
                        Gene:
                        MIR1-1HG (Varview), MIR133A2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000028/1 (ALFA)
                        C=0.000026/7 (TOPMED)
                        C=0.000033/8 (GnomAD_exomes)
                        C=0.000034/3 (ExAC)
                        C=0.000036/5 (GnomAD)
                        HGVS:
                        12.

                        rs782085627 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          20:62564959 (GRCh38)
                          20:61162166 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:62564958:T:G
                          Gene:
                          MIR1-1HG (Varview), MIR133A2 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0./0 (GnomAD)
                          G=0.000029/7 (GnomAD_exomes)
                          G=0.000043/4 (ExAC)
                          HGVS:
                          13.

                          rs781967665 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            20:62564931 (GRCh38)
                            20:61162138 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:62564930:A:G
                            Gene:
                            MIR1-1HG (Varview), MIR133A2 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000032/1 (ALFA)
                            G=0./0 (ExAC)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs781929120 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              20:62564989 (GRCh38)
                              20:61162196 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:62564988:C:A
                              Gene:
                              MIR1-1HG (Varview), MIR133A2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000011/1 (ExAC)
                              HGVS:
                              15.

                              rs781818103 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                20:62565010 (GRCh38)
                                20:61162217 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:62565009:G:A
                                Gene:
                                MIR1-1HG (Varview), MIR133A2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000056/2 (ALFA)
                                A=0.000008/2 (GnomAD_exomes)
                                A=0.000012/1 (ExAC)
                                A=0.000034/9 (TOPMED)
                                A=0.00005/7 (GnomAD)
                                HGVS:
                                16.

                                rs776590484 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  20:62565003 (GRCh38)
                                  20:61162210 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:62565002:T:C
                                  Gene:
                                  MIR1-1HG (Varview), MIR133A2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs561962767 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:62565011 (GRCh38)
                                    20:61162218 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:62565010:C:T
                                    Gene:
                                    MIR1-1HG (Varview), MIR133A2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000034/8 (GnomAD_exomes)
                                    T=0.000096/8 (ExAC)
                                    T=0.001002/1 (GoNL)
                                    HGVS:
                                    18.

                                    rs553267926 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      20:62564984 (GRCh38)
                                      20:61162191 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:62564983:A:C
                                      Gene:
                                      MIR1-1HG (Varview), MIR133A2 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000156/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs541311917 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        20:62564924 (GRCh38)
                                        20:61162131 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:62564923:C:T
                                        Gene:
                                        MIR1-1HG (Varview), MIR133A2 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000022/5 (GnomAD_exomes)
                                        T=0.000025/2 (ExAC)
                                        T=0.000156/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs370228698 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          20:62565012 (GRCh38)
                                          20:61162219 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:62565011:C:A,NC_000020.11:62565011:C:T
                                          Gene:
                                          MIR1-1HG (Varview), MIR133A2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000246/11 (ALFA)
                                          T=0.000114/16 (GnomAD)
                                          T=0.000308/4 (GoESP)
                                          HGVS:

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