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Items: 1 to 20 of 236700

1.

rs1216019840 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    16:83695543
    Gene:
    CDH13 (Varview), LOC105371366 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    C=0.0000/1 (TOPMED)
    HGVS:
    NC_000016.10:g.83695543A>C, NC_000016.9:g.83729148A>C, NG_052819.1:g.1073750A>C
    2.

    rs1216016330 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      16:83661501
      Gene:
      CDH13 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by cluster
      HGVS:
      NC_000016.10:g.83661501T>A, NC_000016.9:g.83695106T>A, NG_052819.1:g.1039708T>A
      3.

      rs1216012121 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        16:83065913
        Gene:
        CDH13 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency
        MAF:
        C=0.0000/1 (GnomAD)
        HGVS:
        NC_000016.10:g.83065913A>C, NC_000016.9:g.83099518A>C, NG_052819.1:g.444120A>C
        4.

        rs1216011560 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          16:83389342
          Gene:
          CDH13 (Varview), LOC105371368 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency
          MAF:
          T=0.0000/1 (TOPMED)
          HGVS:
          NC_000016.10:g.83389342G>T, NC_000016.9:g.83422947G>T, NG_052819.1:g.767549G>T
          5.

          rs1216010051 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            16:82650878
            Gene:
            CDH13 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency
            MAF:
            C=0.0000/1 (GnomAD)
            HGVS:
            NC_000016.10:g.82650878A>C, NC_000016.9:g.82684483A>C, NG_052819.1:g.29085A>C
            6.

            rs1216005947 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              16:83686795
              Gene:
              CDH13 (Varview), LOC105371366 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.0000/4 (TOPMED)
              G=0.0001/2 (GnomAD)
              HGVS:
              NC_000016.10:g.83686795T>C, NC_000016.10:g.83686795T>G, NC_000016.9:g.83720400T>C, NC_000016.9:g.83720400T>G, NG_052819.1:g.1065002T>C, NG_052819.1:g.1065002T>G
              7.

              rs1216004110 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:83527995
                Gene:
                CDH13 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                A=0.0000/2 (TOPMED)
                HGVS:
                NC_000016.10:g.83527995G>A, NC_000016.9:g.83561600G>A, NG_052819.1:g.906202G>A
                8.

                rs1216001562 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AGAAAA>- [Show Flanks]
                  Chromosome:
                  16:83007841
                  Gene:
                  CDH13 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  HGVS:
                  NC_000016.10:g.83007841_83007846del, NC_000016.9:g.83041446_83041451del, NG_052819.1:g.386048_386053del
                  9.

                  rs1215996791 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AA>A [Show Flanks]
                    Chromosome:
                    16:83538146
                    Gene:
                    CDH13 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    -=0.0000/2 (TOPMED)
                    HGVS:
                    NC_000016.10:g.83538147del, NC_000016.9:g.83571752del, NG_052819.1:g.916354del
                    10.

                    rs1215995882 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      16:82783048
                      Gene:
                      CDH13 (Varview), LOC101928446 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      HGVS:
                      NC_000016.10:g.82783048A>C, NC_000016.9:g.82816653A>C, NG_052819.1:g.161255A>C
                      11.

                      rs1215988987 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        16:83646266
                        Gene:
                        CDH13 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.0000/1 (TOPMED)
                        HGVS:
                        NC_000016.10:g.83646266G>C, NC_000016.9:g.83679871G>C, NG_052819.1:g.1024473G>C
                        12.

                        rs1215988255 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          16:83500881
                          Gene:
                          CDH13 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.0000/1 (TOPMED)
                          HGVS:
                          NC_000016.10:g.83500881A>C, NC_000016.9:g.83534486A>C, NG_052819.1:g.879088A>C
                          13.

                          rs1215986222 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:83292605
                            Gene:
                            CDH13 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.0000/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.83292605G>A, NC_000016.9:g.83326210G>A, NG_052819.1:g.670812G>A
                            14.

                            rs1215986116 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:83258506
                              Gene:
                              CDH13 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.0000/1 (TOPMED)
                              HGVS:
                              NC_000016.10:g.83258506G>A, NC_000016.9:g.83292111G>A, NG_052819.1:g.636713G>A
                              15.

                              rs1215982274 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                16:83197099
                                Gene:
                                CDH13 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.0000/5 (TOPMED)
                                HGVS:
                                NC_000016.10:g.83197099C>G, NC_000016.9:g.83230704C>G, NG_052819.1:g.575306C>G
                                16.

                                rs1215979264 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:83466216
                                  Gene:
                                  CDH13 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.0000/1 (TOPMED)
                                  HGVS:
                                  NC_000016.10:g.83466216C>T, NC_000016.9:g.83499821C>T, NG_052819.1:g.844423C>T
                                  17.

                                  rs1215974990 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    G>- [Show Flanks]
                                    Chromosome:
                                    16:83294679
                                    Gene:
                                    CDH13 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.0000/1 (TOPMED)
                                    HGVS:
                                    NC_000016.10:g.83294679del, NC_000016.9:g.83328284del, NG_052819.1:g.672886del
                                    18.

                                    rs1215974445 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:82954846
                                      Gene:
                                      CDH13 (Varview), LOC101928417 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.0000/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.82954846C>T, NC_000016.9:g.82988451C>T, NG_052819.1:g.333053C>T
                                      19.

                                      rs1215974262 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        16:83513748
                                        Gene:
                                        CDH13 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.0000/1 (GnomAD)
                                        T=0.0000/1 (TOPMED)
                                        HGVS:
                                        NC_000016.10:g.83513748G>T, NC_000016.9:g.83547353G>T, NG_052819.1:g.891955G>T
                                        20.

                                        rs1215973848 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          16:82777819
                                          Gene:
                                          CDH13 (Varview), LOC101928446 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.0000/4 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.82777819G>T, NC_000016.9:g.82811424G>T, NG_052819.1:g.156026G>T

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