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Links from Nucleotide

Items: 1 to 20 of 39

1.

rs1458355263 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    12:57519257 (GRCh38)
    12:57913040 (GRCh37)
    Canonical SPDI:
    NC_000012.12:57519256:T:C
    Gene:
    DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000032/1 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1448571365 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C,T [Show Flanks]
      Chromosome:
      12:57519241 (GRCh38)
      12:57913024 (GRCh37)
      Canonical SPDI:
      NC_000012.12:57519240:G:C,NC_000012.12:57519240:G:T
      Gene:
      DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1433831726 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:57519167 (GRCh38)
        12:57912950 (GRCh37)
        Canonical SPDI:
        NC_000012.12:57519166:A:G
        Gene:
        DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000051/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1393316599 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          12:57519224 (GRCh38)
          12:57913007 (GRCh37)
          Canonical SPDI:
          NC_000012.12:57519223:A:G
          Gene:
          DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000012/3 (GnomAD_exomes)
          HGVS:
          5.

          rs1389964498 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:57519176 (GRCh38)
            12:57912959 (GRCh37)
            Canonical SPDI:
            NC_000012.12:57519175:C:A
            Gene:
            DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1273478203 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:57519256 (GRCh38)
              12:57913039 (GRCh37)
              Canonical SPDI:
              NC_000012.12:57519255:C:T
              Gene:
              DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1218239787 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:57519250 (GRCh38)
                12:57913033 (GRCh37)
                Canonical SPDI:
                NC_000012.12:57519249:A:G
                Gene:
                DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1217921096 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  12:57519218 (GRCh38)
                  12:57913001 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:57519217:C:G
                  Gene:
                  DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000011/3 (TOPMED)
                  G=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1212713717 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    12:57519233 (GRCh38)
                    12:57913016 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:57519232:A:C,NC_000012.12:57519232:A:G
                    Gene:
                    DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1206152456 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      12:57519213 (GRCh38)
                      12:57912996 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:57519212:C:A,NC_000012.12:57519212:C:T
                      Gene:
                      DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1057322296 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        12:57519206 (GRCh38)
                        12:57912989 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:57519205:C:G
                        Gene:
                        DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1042108154 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          12:57519243 (GRCh38)
                          12:57913026 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:57519242:G:A,NC_000012.12:57519242:G:T
                          Gene:
                          DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                          Validated:
                          by cluster
                          HGVS:
                          13.

                          rs1010521156 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:57519228 (GRCh38)
                            12:57913011 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:57519227:A:G
                            Gene:
                            DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                            HGVS:
                            14.

                            rs1000632053 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:57519244 (GRCh38)
                              12:57913027 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:57519243:T:C
                              Gene:
                              DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs941035209 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:57519174 (GRCh38)
                                12:57912957 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:57519173:G:A
                                Gene:
                                DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs940563403 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:57519178 (GRCh38)
                                  12:57912961 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:57519177:T:C
                                  Gene:
                                  DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000012/3 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs909593099 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:57519163 (GRCh38)
                                    12:57912946 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:57519162:T:C
                                    Gene:
                                    DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by cluster
                                    HGVS:
                                    18.

                                    rs781596111 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      12:57519209 (GRCh38)
                                      12:57912992 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:57519208:A:G
                                      Gene:
                                      DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000271/12 (ALFA)
                                      G=0.000049/13 (TOPMED)
                                      G=0.000057/8 (GnomAD)
                                      G=0.000092/11 (ExAC)
                                      G=0.000109/27 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs779746596 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        12:57519246 (GRCh38)
                                        12:57913029 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:57519245:G:A,NC_000012.12:57519245:G:T
                                        Gene:
                                        DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.00001/1 (ExAC)
                                        HGVS:
                                        20.

                                        rs778395140 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          12:57519230 (GRCh38)
                                          12:57913013 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:57519229:T:C,NC_000012.12:57519229:T:G
                                          Gene:
                                          DDIT3 (Varview), MBD6 (Varview), MIR616 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          C=0.000009/1 (ExAC)
                                          HGVS:

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