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Items: 1 to 20 of 1293

1.

rs1490908805 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    14:101560383 (GRCh38)
    14:102026720 (GRCh37)
    Canonical SPDI:
    NC_000014.9:101560382:T:A,NC_000014.9:101560382:T:C
    Gene:
    DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
    Functional Consequence:
    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490718325 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      14:101562352 (GRCh38)
      14:102028689 (GRCh37)
      Canonical SPDI:
      NC_000014.9:101562351:C:T
      Gene:
      DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490232527 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        14:101562786 (GRCh38)
        14:102029123 (GRCh37)
        Canonical SPDI:
        NC_000014.9:101562785:T:G
        Gene:
        DIO3 (Varview)
        Functional Consequence:
        3_prime_UTR_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.

        rs1489957882 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:101563378 (GRCh38)
          14:102029715 (GRCh37)
          Canonical SPDI:
          NC_000014.9:101563377:G:A
          Gene:
          DIO3 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1489195213 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            14:101561295 (GRCh38)
            14:102027632 (GRCh37)
            Canonical SPDI:
            NC_000014.9:101561294:CCCCC:CCCC
            Gene:
            DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            CCCC=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489133259 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              14:101560379 (GRCh38)
              14:102026716 (GRCh37)
              Canonical SPDI:
              NC_000014.9:101560378:C:G
              Gene:
              DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
              Functional Consequence:
              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1489030069 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                14:101562067 (GRCh38)
                14:102028404 (GRCh37)
                Canonical SPDI:
                NC_000014.9:101562066:G:A
                Gene:
                DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                HGVS:
                8.

                rs1489021125 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  14:101559437 (GRCh38)
                  14:102025774 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:101559436:C:A
                  Gene:
                  DIO3 (Varview), DIO3OS (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1488609895 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    14:101561854 (GRCh38)
                    14:102028191 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:101561853:G:A
                    Gene:
                    DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                    HGVS:
                    10.

                    rs1488381243 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTG>- [Show Flanks]
                      Chromosome:
                      14:101563245 (GRCh38)
                      14:102029582 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:101563243:GTTG:G
                      Gene:
                      DIO3 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1487291753 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        14:101559761 (GRCh38)
                        14:102026098 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:101559760:C:A
                        Gene:
                        DIO3 (Varview), DIO3OS (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000224/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000223/1 (Estonian)
                        HGVS:
                        12.

                        rs1485776590 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:101563870 (GRCh38)
                          14:102030207 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:101563869:T:C
                          Gene:
                          DIO3 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000084/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1485344653 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            14:101560282 (GRCh38)
                            14:102026619 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:101560281:C:A,NC_000014.9:101560281:C:G
                            Gene:
                            DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1485173839 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->C [Show Flanks]
                              Chromosome:
                              14:101560798 (GRCh38)
                              14:102027136 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:101560798:C:CC
                              Gene:
                              DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CC=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1484193631 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                14:101561113 (GRCh38)
                                14:102027450 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:101561112:T:G
                                Gene:
                                DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.00004/1 (TOMMO)
                                HGVS:
                                16.

                                rs1482554577 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  14:101559506 (GRCh38)
                                  14:102025843 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:101559505:G:C,NC_000014.9:101559505:G:T
                                  Gene:
                                  DIO3 (Varview), DIO3OS (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000026/7 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1482431440 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    14:101560501 (GRCh38)
                                    14:102026838 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:101560500:C:G
                                    Gene:
                                    DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1481930533 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      14:101559588 (GRCh38)
                                      14:102025925 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:101559587:C:A
                                      Gene:
                                      DIO3 (Varview), DIO3OS (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481834430 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        14:101561345 (GRCh38)
                                        14:102027682 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:101561344:G:A,NC_000014.9:101561344:G:T
                                        Gene:
                                        DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1481771332 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:101560788 (GRCh38)
                                          14:102027125 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:101560787:G:A
                                          Gene:
                                          DIO3 (Varview), DIO3OS (Varview), MIR1247 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000015/4 (TOPMED)
                                          A=0.000022/3 (GnomAD)
                                          HGVS:

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