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Items: 1 to 20 of 691

1.

rs1490685176 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    9:128245205 (GRCh38)
    9:131007484 (GRCh37)
    Canonical SPDI:
    NC_000009.12:128245204:C:A,NC_000009.12:128245204:C:T
    Gene:
    DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.000156/1 (1000Genomes)
    A=0.000249/66 (TOPMED)
    HGVS:
    2.

    rs1490631569 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      9:128246082 (GRCh38)
      9:131008361 (GRCh37)
      Canonical SPDI:
      NC_000009.12:128246081:T:C
      Gene:
      DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
      Functional Consequence:
      upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1489549142 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:128244694 (GRCh38)
        9:131006973 (GRCh37)
        Canonical SPDI:
        NC_000009.12:128244693:C:T
        Gene:
        DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant,intron_variant
        HGVS:
        4.

        rs1488255689 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          9:128245130 (GRCh38)
          9:131007409 (GRCh37)
          Canonical SPDI:
          NC_000009.12:128245129:T:C
          Gene:
          DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1482427938 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            9:128244698 (GRCh38)
            9:131006977 (GRCh37)
            Canonical SPDI:
            NC_000009.12:128244697:C:A
            Gene:
            DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1481763784 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:128245970 (GRCh38)
              9:131008249 (GRCh37)
              Canonical SPDI:
              NC_000009.12:128245969:C:T
              Gene:
              DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000014/2 (GnomAD)
              T=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1480887377 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                9:128246164 (GRCh38)
                9:131008443 (GRCh37)
                Canonical SPDI:
                NC_000009.12:128246163:C:A
                Gene:
                DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1480860838 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  9:128244949 (GRCh38)
                  9:131007229 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:128244949:CCCC:CCCCC
                  Gene:
                  DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCCCC=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1480814465 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    9:128246004 (GRCh38)
                    9:131008284 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:128246004::A
                    Gene:
                    DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1480209190 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:128246075 (GRCh38)
                      9:131008354 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:128246074:C:T
                      Gene:
                      DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000019/5 (TOPMED)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1479781695 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        9:128246812 (GRCh38)
                        9:131009091 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:128246811:C:T
                        Gene:
                        DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000029/4 (GnomAD)
                        HGVS:
                        12.

                        rs1478964951 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          9:128244844 (GRCh38)
                          9:131007123 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:128244843:C:T
                          Gene:
                          DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1478581992 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            9:128246546 (GRCh38)
                            9:131008825 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:128246545:C:G
                            Gene:
                            DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.000035/1 (TOMMO)
                            G=0.000342/1 (KOREAN)
                            HGVS:
                            14.

                            rs1476517521 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:128244923 (GRCh38)
                              9:131007202 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:128244922:C:T
                              Gene:
                              DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                              Functional Consequence:
                              intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                              HGVS:
                              15.

                              rs1476143432 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                9:128245558 (GRCh38)
                                9:131007837 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:128245557:C:G
                                Gene:
                                DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1475916602 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:128245109 (GRCh38)
                                  9:131007388 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:128245108:A:G
                                  Gene:
                                  DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000084/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1473671962 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:128244514 (GRCh38)
                                    9:131006793 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:128244513:C:T
                                    Gene:
                                    DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                                    Functional Consequence:
                                    intron_variant,500B_downstream_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1472871912 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      9:128246321 (GRCh38)
                                      9:131008600 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:128246320:G:A,NC_000009.12:128246320:G:C
                                      Gene:
                                      DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,intron_variant,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:
                                      19.

                                      rs1472260226 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:128244937 (GRCh38)
                                        9:131007216 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:128244936:G:A
                                        Gene:
                                        DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                                        Functional Consequence:
                                        intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                        HGVS:
                                        20.

                                        rs1472038231 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          9:128244942 (GRCh38)
                                          9:131007221 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:128244941:C:A
                                          Gene:
                                          DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
                                          Functional Consequence:
                                          intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:

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