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Links from Nucleotide

Items: 15

1.

rs1482388559 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    7:18127305 (GRCh38)
    7:18166928 (GRCh37)
    Canonical SPDI:
    NC_000007.14:18127304:T:A
    Gene:
    HDAC9 (Varview), MIR1302-6 (Varview)
    Functional Consequence:
    genic_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)
    A=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1425643019 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      7:18127272 (GRCh38)
      7:18166895 (GRCh37)
      Canonical SPDI:
      NC_000007.14:18127271:A:G
      Gene:
      HDAC9 (Varview), MIR1302-6 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,genic_upstream_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:
      3.

      rs1336257093 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        7:18127246 (GRCh38)
        7:18166869 (GRCh37)
        Canonical SPDI:
        NC_000007.14:18127245:A:G
        Gene:
        HDAC9 (Varview), MIR1302-6 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000011/3 (TOPMED)
        G=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1277259518 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          7:18127307 (GRCh38)
          7:18166930 (GRCh37)
          Canonical SPDI:
          NC_000007.14:18127306:G:A,NC_000007.14:18127306:G:C
          Gene:
          HDAC9 (Varview), MIR1302-6 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          C=0.000071/1 (TOMMO)
          HGVS:
          5.

          rs1256910675 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            7:18127296 (GRCh38)
            7:18166919 (GRCh37)
            Canonical SPDI:
            NC_000007.14:18127295:C:T
            Gene:
            HDAC9 (Varview), MIR1302-6 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000142/2 (ALFA)
            T=0.000019/5 (TOPMED)
            HGVS:
            6.

            rs1244679635 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              7:18127230 (GRCh38)
              7:18166853 (GRCh37)
              Canonical SPDI:
              NC_000007.14:18127229:C:
              Gene:
              HDAC9 (Varview), MIR1302-6 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000007/1 (GnomAD)
              -=0.00003/8 (TOPMED)
              HGVS:
              7.

              rs1015146063 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                7:18127288 (GRCh38)
                7:18166911 (GRCh37)
                Canonical SPDI:
                NC_000007.14:18127287:A:G
                Gene:
                HDAC9 (Varview), MIR1302-6 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.5/1 (Siberian)
                HGVS:
                8.

                rs990693292 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  7:18127236 (GRCh38)
                  7:18166859 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:18127235:T:C
                  Gene:
                  HDAC9 (Varview), MIR1302-6 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000015/4 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs983389371 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    7:18127299 (GRCh38)
                    7:18166922 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:18127298:A:C,NC_000007.14:18127298:A:G
                    Gene:
                    HDAC9 (Varview), MIR1302-6 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0./0 (GnomAD)
                    C=0.000004/1 (TOPMED)
                    C=0.000042/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs970935225 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      7:18127268 (GRCh38)
                      7:18166891 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:18127267:A:G
                      Gene:
                      HDAC9 (Varview), MIR1302-6 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000026/7 (TOPMED)
                      HGVS:
                      11.

                      rs918140618 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:18127230 (GRCh38)
                        7:18166853 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:18127229:C:T
                        Gene:
                        HDAC9 (Varview), MIR1302-6 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,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:
                        12.

                        rs917752951 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          7:18127239 (GRCh38)
                          7:18166862 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:18127238:C:T
                          Gene:
                          HDAC9 (Varview), MIR1302-6 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          C=0.5/1 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs776857672 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:18127291 (GRCh38)
                            7:18166914 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:18127290:T:C
                            Gene:
                            HDAC9 (Varview), MIR1302-6 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.0001/1 (ExAC)
                            HGVS:
                            14.

                            rs771080996 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              7:18127224 (GRCh38)
                              7:18166847 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:18127223:C:A,NC_000007.14:18127223:C:T
                              Gene:
                              HDAC9 (Varview), MIR1302-6 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.00004/1 (GnomAD_exomes)
                              A=0.00011/1 (ExAC)
                              HGVS:
                              15.

                              rs569032245 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                7:18127262 (GRCh38)
                                7:18166885 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:18127261:T:C
                                Gene:
                                HDAC9 (Varview), MIR1302-6 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0./0 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:

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