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Links from Gene

Items: 1 to 20 of 552

1.

rs1488833043 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    2:176148709 (GRCh38)
    2:177013437 (GRCh37)
    Canonical SPDI:
    NC_000002.12:176148708:G:T
    Gene:
    MIR10B (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1487540963 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:176150431 (GRCh38)
      2:177015159 (GRCh37)
      Canonical SPDI:
      NC_000002.12:176150430:A:G
      Gene:
      HOXD4 (Varview), MIR10B (Varview)
      Functional Consequence:
      upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
      Validated:
      by frequency
      MAF:
      G=0.000008/2 (GnomAD_exomes)
      HGVS:
      3.

      rs1486783568 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:176150437 (GRCh38)
        2:177015165 (GRCh37)
        Canonical SPDI:
        NC_000002.12:176150436:C:T
        Gene:
        HOXD4 (Varview), MIR10B (Varview)
        Functional Consequence:
        upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1486317430 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          2:176149137 (GRCh38)
          2:177013865 (GRCh37)
          Canonical SPDI:
          NC_000002.12:176149136:A:C
          Gene:
          MIR10B (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000071/1 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          C=0.000106/2 (TOMMO)
          C=0.000546/1 (Korea1K)
          C=0.001027/3 (KOREAN)
          HGVS:
          5.

          rs1486178712 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:176149801 (GRCh38)
            2:177014529 (GRCh37)
            Canonical SPDI:
            NC_000002.12:176149800:G:A
            Gene:
            HOXD4 (Varview), MIR10B (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1485039730 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTCTTTCTT>- [Show Flanks]
              Chromosome:
              2:176150088 (GRCh38)
              2:177014816 (GRCh37)
              Canonical SPDI:
              NC_000002.12:176150077:TTTCTTTCTTTTTTTCTTTCTT:TTTCTTTCTT
              Gene:
              HOXD4 (Varview), MIR10B (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              TTTCTTTCTT=0./0 (ALFA)
              -=0.000045/12 (TOPMED)
              HGVS:
              7.

              rs1484657916 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                2:176149577 (GRCh38)
                2:177014305 (GRCh37)
                Canonical SPDI:
                NC_000002.12:176149576:A:C
                Gene:
                HOXD4 (Varview), MIR10B (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1484501540 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  2:176148941 (GRCh38)
                  2:177013669 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:176148940:A:C
                  Gene:
                  MIR10B (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/3 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1482020820 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    2:176148409 (GRCh38)
                    2:177013137 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:176148408:G:A,NC_000002.12:176148408:G:C
                    Gene:
                    MIR10B (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1481299352 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:176148380 (GRCh38)
                      2:177013108 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:176148379:G:A
                      Gene:
                      MIR10B (Varview)
                      Functional Consequence:
                      upstream_transcript_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)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1480581337 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        2:176149635 (GRCh38)
                        2:177014363 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:176149634:T:C,NC_000002.12:176149634:T:G
                        Gene:
                        HOXD4 (Varview), MIR10B (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1479917833 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          2:176149852 (GRCh38)
                          2:177014580 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:176149851:G:T
                          Gene:
                          HOXD4 (Varview), MIR10B (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1478722977 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            2:176148694 (GRCh38)
                            2:177013422 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:176148693:T:G
                            Gene:
                            MIR10B (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1478444097 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              2:176150222 (GRCh38)
                              2:177014950 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:176150221:G:A,NC_000002.12:176150221:G:T
                              Gene:
                              HOXD4 (Varview), MIR10B (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1475008084 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                2:176148470 (GRCh38)
                                2:177013198 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:176148469:G:C,NC_000002.12:176148469:G:T
                                Gene:
                                MIR10B (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1474194750 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  2:176150684 (GRCh38)
                                  2:177015412 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:176150683:A:C
                                  Gene:
                                  HOXD3 (Varview), HOXD4 (Varview), MIR10B (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000038/10 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1472196637 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GAGAGAGAGAAAGAGAGA>- [Show Flanks]
                                    Chromosome:
                                    2:176150632 (GRCh38)
                                    2:177015360 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:176150616:AGAGAGAAAGAGAGAGAGAGAGAGAAAGAGAGA:AGAGAGAAAGAGAGA
                                    Gene:
                                    HOXD3 (Varview), HOXD4 (Varview), MIR10B (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AGAGAGAAAGAGAGA=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1470371608 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      2:176150480 (GRCh38)
                                      2:177015208 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:176150479:C:G
                                      Gene:
                                      HOXD4 (Varview), MIR10B (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1469186039 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:176150763 (GRCh38)
                                        2:177015491 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:176150762:G:A
                                        Gene:
                                        HOXD3 (Varview), HOXD4 (Varview), MIR10B (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000015/4 (TOPMED)
                                        A=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1468174760 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:176148843 (GRCh38)
                                          2:177013571 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:176148842:G:A
                                          Gene:
                                          MIR10B (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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