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Items: 1 to 20 of 1000

1.

rs1491588794 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    20:38994643 (GRCh38)
    20:37623286 (GRCh37)
    Canonical SPDI:
    NC_000020.11:38994642:CT:
    Gene:
    DHX35 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000056/7 (GnomAD)
    HGVS:
    2.

    rs1491551611 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      20:39039232 (GRCh38)
      20:37667875 (GRCh37)
      Canonical SPDI:
      NC_000020.11:39039231:CA:
      Gene:
      DHX35 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491536810 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        20:38997799 (GRCh38)
        20:37626443 (GRCh37)
        Canonical SPDI:
        NC_000020.11:38997799:G:GG
        Gene:
        DHX35 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GG=0.000084/1 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1491478847 has merged into rs35259351 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
          Chromosome:
          20:38994640 (GRCh38)
          20:37623283 (GRCh37)
          Canonical SPDI:
          NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:38994631:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
          Gene:
          DHX35 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CCCCCCCCC=0./0 (ALFA)
          -=0.0163/63 (ALSPAC)
          C=0.4585/2296 (1000Genomes)
          HGVS:
          5.

          rs1491464769 has merged into rs56980978 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
            Chromosome:
            20:38986202 (GRCh38)
            20:37614845 (GRCh37)
            Canonical SPDI:
            NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:38986188:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
            Gene:
            DHX35 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
            -=0.4187/2097 (1000Genomes)
            HGVS:
            6.

            rs1491449239 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AC>- [Show Flanks]
              Chromosome:
              20:38994631 (GRCh38)
              20:37623274 (GRCh37)
              Canonical SPDI:
              NC_000020.11:38994630:AC:
              Gene:
              DHX35 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1491417123 has merged into rs58084339 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAAA>-,A,AA,AAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                20:38985383 (GRCh38)
                20:37614026 (GRCh37)
                Canonical SPDI:
                NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:38985374:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                DHX35 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAA=0./0 (ALFA)
                -=0.2326/1165 (1000Genomes)
                HGVS:
                NC_000020.11:g.38985383_38985395del, NC_000020.11:g.38985384_38985395del, NC_000020.11:g.38985385_38985395del, NC_000020.11:g.38985386_38985395del, NC_000020.11:g.38985391_38985395del, NC_000020.11:g.38985392_38985395del, NC_000020.11:g.38985393_38985395del, NC_000020.11:g.38985394_38985395del, NC_000020.11:g.38985395del, NC_000020.11:g.38985395dup, NC_000020.11:g.38985394_38985395dup, NC_000020.11:g.38985393_38985395dup, NC_000020.11:g.38985392_38985395dup, NC_000020.11:g.38985391_38985395dup, NC_000020.10:g.37614026_37614038del, NC_000020.10:g.37614027_37614038del, NC_000020.10:g.37614028_37614038del, NC_000020.10:g.37614029_37614038del, NC_000020.10:g.37614034_37614038del, NC_000020.10:g.37614035_37614038del, NC_000020.10:g.37614036_37614038del, NC_000020.10:g.37614037_37614038del, NC_000020.10:g.37614038del, NC_000020.10:g.37614038dup, NC_000020.10:g.37614037_37614038dup, NC_000020.10:g.37614036_37614038dup, NC_000020.10:g.37614035_37614038dup, NC_000020.10:g.37614034_37614038dup
                8.

                rs1491371140 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  20:38994643 (GRCh38)
                  20:37623287 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:38994643::G
                  Gene:
                  DHX35 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  HGVS:
                  9.

                  rs1491333854 has merged into rs60032935 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    20:39036736 (GRCh38)
                    20:37665379 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:39036726:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    DHX35 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAA=0./0 (ALFA)
                    AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.01326/7 (NorthernSweden)
                    HGVS:
                    NC_000020.11:g.39036736_39036752del, NC_000020.11:g.39036738_39036752del, NC_000020.11:g.39036739_39036752del, NC_000020.11:g.39036741_39036752del, NC_000020.11:g.39036742_39036752del, NC_000020.11:g.39036743_39036752del, NC_000020.11:g.39036744_39036752del, NC_000020.11:g.39036745_39036752del, NC_000020.11:g.39036746_39036752del, NC_000020.11:g.39036747_39036752del, NC_000020.11:g.39036748_39036752del, NC_000020.11:g.39036749_39036752del, NC_000020.11:g.39036750_39036752del, NC_000020.11:g.39036751_39036752del, NC_000020.11:g.39036752del, NC_000020.11:g.39036752dup, NC_000020.11:g.39036751_39036752dup, NC_000020.11:g.39036750_39036752dup, NC_000020.11:g.39036749_39036752dup, NC_000020.11:g.39036748_39036752dup, NC_000020.11:g.39036747_39036752dup, NC_000020.11:g.39036746_39036752dup, NC_000020.11:g.39036745_39036752dup, NC_000020.11:g.39036742_39036752dup, NC_000020.11:g.39036731_39036752dup, NC_000020.11:g.39036752_39036753insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.37665379_37665395del, NC_000020.10:g.37665381_37665395del, NC_000020.10:g.37665382_37665395del, NC_000020.10:g.37665384_37665395del, NC_000020.10:g.37665385_37665395del, NC_000020.10:g.37665386_37665395del, NC_000020.10:g.37665387_37665395del, NC_000020.10:g.37665388_37665395del, NC_000020.10:g.37665389_37665395del, NC_000020.10:g.37665390_37665395del, NC_000020.10:g.37665391_37665395del, NC_000020.10:g.37665392_37665395del, NC_000020.10:g.37665393_37665395del, NC_000020.10:g.37665394_37665395del, NC_000020.10:g.37665395del, NC_000020.10:g.37665395dup, NC_000020.10:g.37665394_37665395dup, NC_000020.10:g.37665393_37665395dup, NC_000020.10:g.37665392_37665395dup, NC_000020.10:g.37665391_37665395dup, NC_000020.10:g.37665390_37665395dup, NC_000020.10:g.37665389_37665395dup, NC_000020.10:g.37665388_37665395dup, NC_000020.10:g.37665385_37665395dup, NC_000020.10:g.37665374_37665395dup, NC_000020.10:g.37665395_37665396insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    10.

                    rs1491254045 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      20:39039232 (GRCh38)
                      20:37667876 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:39039232:A:AA
                      Gene:
                      DHX35 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AA=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1491162797 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>-,T [Show Flanks]
                        Chromosome:
                        20:38997048 (GRCh38)
                        20:37625691 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:38997045:TTTT:TT,NC_000020.11:38997045:TTTT:TTT
                        Gene:
                        DHX35 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTT=0./0 (ALFA)
                        -=0.000037/5 (GnomAD)
                        HGVS:
                        12.

                        rs1491134745 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          20:38985374 (GRCh38)
                          20:37614017 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:38985373:CA:
                          Gene:
                          DHX35 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0.000253/3 (ALFA)
                          -=0.000059/6 (GnomAD)
                          HGVS:
                          13.

                          rs1491114882 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AG>- [Show Flanks]
                            Chromosome:
                            20:38997801 (GRCh38)
                            20:37626444 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:38997798:AGAG:AG
                            Gene:
                            DHX35 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AGAG=0.000071/1 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1491090663 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CG [Show Flanks]
                              Chromosome:
                              20:38985574 (GRCh38)
                              20:37614218 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:38985574:G:GCG
                              Gene:
                              DHX35 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GCG=0.000071/1 (ALFA)
                              GC=0.000079/11 (GnomAD)
                              GC=0.000136/36 (TOPMED)
                              GC=0.000283/5 (TOMMO)
                              GC=0.001638/3 (Korea1K)
                              HGVS:
                              15.

                              rs1491025563 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TG>- [Show Flanks]
                                Chromosome:
                                20:39034607 (GRCh38)
                                20:37663250 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:39034606:TG:
                                Gene:
                                DHX35 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.000062/1 (ALFA)
                                -=0.000142/16 (GnomAD)
                                HGVS:
                                16.

                                rs1490956717 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  20:39017761 (GRCh38)
                                  20:37646404 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:39017760:C:A,NC_000020.11:39017760:C:T
                                  Gene:
                                  DHX35 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  A=0.000035/1 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1490912188 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:38962559 (GRCh38)
                                    20:37591202 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:38962558:G:A
                                    Gene:
                                    DHX35 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490910702 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      20:39018871 (GRCh38)
                                      20:37647514 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:39018870:C:T
                                      Gene:
                                      DHX35 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490876229 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        20:39014559 (GRCh38)
                                        20:37643202 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:39014558:T:A
                                        Gene:
                                        DHX35 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490831123 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          20:38979705 (GRCh38)
                                          20:37608348 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:38979704:G:A
                                          Gene:
                                          DHX35 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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