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Links from Gene

Items: 1 to 20 of 1360

1.

rs1491385845 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    17:82038606 (GRCh38)
    17:79996483 (GRCh37)
    Canonical SPDI:
    NC_000017.11:82038606::G
    Gene:
    DCXR (Varview), DCXR-DT (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000014/2 (GnomAD)
    G=0.000015/4 (TOPMED)
    G=0.000177/3 (TOMMO)
    HGVS:
    2.

    rs1491180087 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:82038607 (GRCh38)
      17:79996483 (GRCh37)
      Canonical SPDI:
      NC_000017.11:82038605:ACA:A
      Gene:
      DCXR (Varview), DCXR-DT (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      -=0./0 (GnomAD)
      -=0.000011/3 (TOPMED)
      -=0.000312/2 (1000Genomes)
      HGVS:
      3.

      rs1490852015 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:82035857 (GRCh38)
        17:79993733 (GRCh37)
        Canonical SPDI:
        NC_000017.11:82035856:G:A
        Gene:
        DCXR (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490582676 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          17:82038009 (GRCh38)
          17:79995885 (GRCh37)
          Canonical SPDI:
          NC_000017.11:82038008:G:A,NC_000017.11:82038008:G:C
          Gene:
          DCXR (Varview), DCXR-DT (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1490531772 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:82038938 (GRCh38)
            17:79996814 (GRCh37)
            Canonical SPDI:
            NC_000017.11:82038937:G:A
            Gene:
            DCXR (Varview), DCXR-DT (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490225969 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:82036499 (GRCh38)
              17:79994375 (GRCh37)
              Canonical SPDI:
              NC_000017.11:82036498:A:G
              Gene:
              DCXR (Varview), DCXR-DT (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000096/2 (ALFA)
              G=0.000008/1 (ExAC)
              G=0.000016/4 (GnomAD_exomes)
              HGVS:
              7.

              rs1489408291 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:82037409 (GRCh38)
                17:79995285 (GRCh37)
                Canonical SPDI:
                NC_000017.11:82037408:T:C
                Gene:
                DCXR (Varview), DCXR-DT (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488735355 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  17:82039316 (GRCh38)
                  17:79997192 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:82039315:G:A,NC_000017.11:82039315:G:C
                  Gene:
                  DCXR (Varview), DCXR-DT (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.00143/17 (ALFA)
                  HGVS:
                  9.

                  rs1488613885 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:82038662 (GRCh38)
                    17:79996538 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:82038661:T:C
                    Gene:
                    DCXR (Varview), DCXR-DT (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488535331 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      17:82037489 (GRCh38)
                      17:79995365 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:82037488:C:A
                      Gene:
                      DCXR (Varview), DCXR-DT (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                      HGVS:
                      11.

                      rs1487666622 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        17:82037687 (GRCh38)
                        17:79995563 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:82037686:G:A,NC_000017.11:82037686:G:C
                        Gene:
                        DCXR (Varview), DCXR-DT (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1487444343 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:82036665 (GRCh38)
                          17:79994541 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:82036664:G:A
                          Gene:
                          DCXR (Varview), DCXR-DT (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,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)
                          HGVS:
                          13.

                          rs1486105510 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            17:82035584 (GRCh38)
                            17:79993460 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:82035583:C:A,NC_000017.11:82035583:C:G
                            Gene:
                            DCXR (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1485779093 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              17:82036289 (GRCh38)
                              17:79994165 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:82036288:T:G
                              Gene:
                              DCXR (Varview), DCXR-DT (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.00008/1 (ALFA)
                              G=0.00034/1 (KOREAN)
                              HGVS:
                              15.

                              rs1485457279 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                17:82035819 (GRCh38)
                                17:79993695 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:82035818:C:A,NC_000017.11:82035818:C:T
                                Gene:
                                DCXR (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000019/5 (TOPMED)
                                A=0.00006/1 (TOMMO)
                                T=0.000342/1 (KOREAN)
                                HGVS:
                                16.

                                rs1485154069 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  17:82036482 (GRCh38)
                                  17:79994358 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:82036481:G:A,NC_000017.11:82036481:G:C
                                  Gene:
                                  DCXR (Varview), DCXR-DT (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1484558867 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    17:82036417 (GRCh38)
                                    17:79994293 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:82036416:G:C,NC_000017.11:82036416:G:T
                                    Gene:
                                    DCXR (Varview), DCXR-DT (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484485894 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      17:82037035 (GRCh38)
                                      17:79994911 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:82037034:T:A
                                      Gene:
                                      DCXR (Varview), DCXR-DT (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000007/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1483736378 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        17:82036622 (GRCh38)
                                        17:79994498 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:82036621:C:A,NC_000017.11:82036621:C:G
                                        Gene:
                                        DCXR (Varview), DCXR-DT (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1483328053 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:82037155 (GRCh38)
                                          17:79995031 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:82037154:G:A
                                          Gene:
                                          DCXR (Varview), DCXR-DT (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000019/5 (TOPMED)
                                          HGVS:

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