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Items: 1 to 20 of 978

1.

rs1489840665 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:5467464 (GRCh38)
    17:5370784 (GRCh37)
    Canonical SPDI:
    NC_000017.11:5467463:A:G
    Gene:
    DHX33 (Varview), DHX33-DT (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1489151046 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      17:5467978 (GRCh38)
      17:5371298 (GRCh37)
      Canonical SPDI:
      NC_000017.11:5467977:C:A,NC_000017.11:5467977:C:T
      Gene:
      DHX33 (Varview), DHX33-DT (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1487856669 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        17:5468930 (GRCh38)
        17:5372250 (GRCh37)
        Canonical SPDI:
        NC_000017.11:5468929:G:A,NC_000017.11:5468929:G:C
        Gene:
        DHX33 (Varview), DHX33-DT (Varview)
        Functional Consequence:
        5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0./0 (GnomAD)
        HGVS:
        4.

        rs1487631458 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          17:5468729 (GRCh38)
          17:5372049 (GRCh37)
          Canonical SPDI:
          NC_000017.11:5468728:C:G
          Gene:
          DHX33 (Varview), DHX33-DT (Varview)
          Functional Consequence:
          coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1487532726 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:5468672 (GRCh38)
            17:5371992 (GRCh37)
            Canonical SPDI:
            NC_000017.11:5468671:T:C
            Gene:
            DHX33 (Varview), DHX33-DT (Varview)
            Functional Consequence:
            coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1487248763 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:5469444 (GRCh38)
              17:5372764 (GRCh37)
              Canonical SPDI:
              NC_000017.11:5469443:G:A
              Gene:
              DHX33 (Varview), DHX33-DT (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487217124 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:5467267 (GRCh38)
                17:5370587 (GRCh37)
                Canonical SPDI:
                NC_000017.11:5467266:T:C
                Gene:
                DHX33 (Varview), DHX33-DT (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1487007789 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:5469951 (GRCh38)
                  17:5373271 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:5469950:A:G
                  Gene:
                  DHX33 (Varview), DHX33-DT (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1486854133 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:5468867 (GRCh38)
                    17:5372187 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:5468866:G:A
                    Gene:
                    DHX33 (Varview), DHX33-DT (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_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)
                    A=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1486799222 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:5467360 (GRCh38)
                      17:5370680 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:5467359:G:A
                      Gene:
                      DHX33 (Varview), DHX33-DT (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1486496530 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:5469159 (GRCh38)
                        17:5372479 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:5469158:T:C
                        Gene:
                        DHX33 (Varview), DHX33-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=0.000014/2 (GnomAD)
                        C=0.000156/1 (1000Genomes)
                        HGVS:
                        12.

                        rs1486237863 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          17:5468290 (GRCh38)
                          17:5371610 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:5468289:A:C,NC_000017.11:5468289:A:G
                          Gene:
                          DHX33 (Varview), DHX33-DT (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.0002/1 (1000Genomes)
                          C=0.0038/7 (Korea1K)
                          HGVS:
                          13.

                          rs1486056043 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:5469867 (GRCh38)
                            17:5373187 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:5469866:T:C
                            Gene:
                            DHX33 (Varview), DHX33-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=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1483577391 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              17:5469052 (GRCh38)
                              17:5372372 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:5469051:G:A
                              Gene:
                              DHX33 (Varview), DHX33-DT (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1482606119 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                17:5468612 (GRCh38)
                                17:5371932 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:5468611:A:C
                                Gene:
                                DHX33 (Varview), DHX33-DT (Varview)
                                Functional Consequence:
                                coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1481288903 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:5470185 (GRCh38)
                                  17:5373505 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:5470184:T:C
                                  Gene:
                                  DHX33 (Varview), DHX33-DT (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1481082472 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:5467579 (GRCh38)
                                    17:5370899 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:5467578:C:T
                                    Gene:
                                    DHX33 (Varview), DHX33-DT (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1481047547 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      17:5467097 (GRCh38)
                                      17:5370417 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:5467096:G:T
                                      Gene:
                                      DHX33 (Varview), DHX33-DT (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480386508 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:5467966 (GRCh38)
                                        17:5371286 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:5467965:G:A
                                        Gene:
                                        DHX33 (Varview), DHX33-DT (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1479408856 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:5467540 (GRCh38)
                                          17:5370860 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:5467539:A:G
                                          Gene:
                                          DHX33 (Varview), DHX33-DT (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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