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Items: 1 to 20 of 1000

1.

rs1491580503 has merged into rs11369332 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAAA [Show Flanks]
    Chromosome:
    17:56896682 (GRCh38)
    17:54974043 (GRCh37)
    Canonical SPDI:
    NC_000017.11:56896668:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:56896668:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:56896668:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:56896668:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:56896668:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:56896668:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    TRIM25 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    A=0.2907/1456 (1000Genomes)
    A=0.3392/192 (NorthernSweden)
    HGVS:
    2.

    rs1491076311 has merged into rs35522005 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>-,A,AAA,AAAA [Show Flanks]
      Chromosome:
      17:56900225 (GRCh38)
      17:54977586 (GRCh37)
      Canonical SPDI:
      NC_000017.11:56900213:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:56900213:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:56900213:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:56900213:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
      Gene:
      TRIM25 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAA=0./0 (ALFA)
      -=0.12864/477 (TWINSUK)
      -=0.12974/500 (ALSPAC)
      -=0.14555/579 (1000Genomes)
      HGVS:
      3.

      rs1490965520 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        17:56894480 (GRCh38)
        17:54971841 (GRCh37)
        Canonical SPDI:
        NC_000017.11:56894479:C:A
        Gene:
        TRIM25 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1490863845 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:56887803 (GRCh38)
          17:54965164 (GRCh37)
          Canonical SPDI:
          NC_000017.11:56887802:G:A
          Gene:
          TRIM25 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490748647 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:56911295 (GRCh38)
            17:54988656 (GRCh37)
            Canonical SPDI:
            NC_000017.11:56911294:A:G
            Gene:
            TRIM25 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000011/3 (TOPMED)
            G=0.000043/6 (GnomAD)
            HGVS:
            6.

            rs1490663018 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              17:56903731 (GRCh38)
              17:54981092 (GRCh37)
              Canonical SPDI:
              NC_000017.11:56903730:A:T
              Gene:
              TRIM25 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1490471278 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                17:56912466 (GRCh38)
                17:54989827 (GRCh37)
                Canonical SPDI:
                NC_000017.11:56912465:A:T
                Gene:
                TRIM25 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490334234 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:56904748 (GRCh38)
                  17:54982109 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:56904747:C:T
                  Gene:
                  TRIM25 (Varview)
                  Functional Consequence:
                  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:
                  9.

                  rs1490329420 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:56903633 (GRCh38)
                    17:54980994 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:56903632:A:G
                    Gene:
                    TRIM25 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1490090745 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:56896738 (GRCh38)
                      17:54974099 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:56896737:T:C
                      Gene:
                      TRIM25 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000011/3 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490019624 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        17:56890657 (GRCh38)
                        17:54968018 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:56890656:T:A
                        Gene:
                        TRIM25 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.0002/1 (ALFA)
                        A=0.0002/1 (Estonian)
                        HGVS:
                        12.

                        rs1489928070 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          17:56896345 (GRCh38)
                          17:54973706 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:56896344:C:A
                          Gene:
                          TRIM25 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489884334 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:56913016 (GRCh38)
                            17:54990377 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:56913015:T:C
                            Gene:
                            TRIM25 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489771334 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              17:56913972 (GRCh38)
                              17:54991333 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:56913971:G:A,NC_000017.11:56913971:G:C
                              Gene:
                              TRIM25 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              C=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1489643140 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                17:56888334 (GRCh38)
                                17:54965695 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:56888333:T:A
                                Gene:
                                TRIM25 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1489576594 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  17:56900855 (GRCh38)
                                  17:54978216 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:56900854:A:G
                                  Gene:
                                  TRIM25 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489475357 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G [Show Flanks]
                                    Chromosome:
                                    17:56896326 (GRCh38)
                                    17:54973687 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:56896325:C:A,NC_000017.11:56896325:C:G
                                    Gene:
                                    TRIM25 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489420356 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:56888899 (GRCh38)
                                      17:54966260 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:56888898:C:T
                                      Gene:
                                      TRIM25 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489234646 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G [Show Flanks]
                                        Chromosome:
                                        17:56892039 (GRCh38)
                                        17:54969400 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:56892038:C:A,NC_000017.11:56892038:C:G
                                        Gene:
                                        TRIM25 (Varview), MIR3614 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489143826 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GAAGCATT>- [Show Flanks]
                                          Chromosome:
                                          17:56908728 (GRCh38)
                                          17:54986089 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:56908725:TTGAAGCATT:TT
                                          Gene:
                                          TRIM25 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TT=0./0 (ALFA)
                                          -=0.000014/2 (GnomAD)
                                          HGVS:

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