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Items: 1 to 20 of 38612

1.

rs1491563343 has merged into rs111962610 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
    Chromosome:
    15:39640737 (GRCh38)
    15:39932938 (GRCh37)
    Canonical SPDI:
    NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
    Gene:
    FSIP1 (Varview), LOC105370785 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    A=0.275/11 (GENOME_DK)
    HGVS:
    NC_000015.10:g.39640737_39640743del, NC_000015.10:g.39640738_39640743del, NC_000015.10:g.39640740_39640743del, NC_000015.10:g.39640741_39640743del, NC_000015.10:g.39640742_39640743del, NC_000015.10:g.39640743del, NC_000015.10:g.39640743dup, NC_000015.10:g.39640742_39640743dup, NC_000015.10:g.39640741_39640743dup, NC_000015.10:g.39640739_39640743dup, NC_000015.9:g.39932938_39932944del, NC_000015.9:g.39932939_39932944del, NC_000015.9:g.39932941_39932944del, NC_000015.9:g.39932942_39932944del, NC_000015.9:g.39932943_39932944del, NC_000015.9:g.39932944del, NC_000015.9:g.39932944dup, NC_000015.9:g.39932943_39932944dup, NC_000015.9:g.39932942_39932944dup, NC_000015.9:g.39932940_39932944dup, XR_932156.3:n.513_519del, XR_932156.3:n.514_519del, XR_932156.3:n.516_519del, XR_932156.3:n.517_519del, XR_932156.3:n.518_519del, XR_932156.3:n.519del, XR_932156.3:n.519dup, XR_932156.3:n.518_519dup, XR_932156.3:n.517_519dup, XR_932156.3:n.515_519dup, XR_932156.2:n.890_896del, XR_932156.2:n.891_896del, XR_932156.2:n.893_896del, XR_932156.2:n.894_896del, XR_932156.2:n.895_896del, XR_932156.2:n.896del, XR_932156.2:n.896dup, XR_932156.2:n.895_896dup, XR_932156.2:n.894_896dup, XR_932156.2:n.892_896dup, XR_932156.1:n.532_538del, XR_932156.1:n.533_538del, XR_932156.1:n.535_538del, XR_932156.1:n.536_538del, XR_932156.1:n.537_538del, XR_932156.1:n.538del, XR_932156.1:n.538dup, XR_932156.1:n.537_538dup, XR_932156.1:n.536_538dup, XR_932156.1:n.534_538dup
    2.

    rs1491552006 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CA [Show Flanks]
      Chromosome:
      15:39640728 (GRCh38)
      15:39932930 (GRCh37)
      Canonical SPDI:
      NC_000015.10:39640728:A:ACA
      Gene:
      FSIP1 (Varview), LOC105370785 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      ACA=0./0 (ALFA)
      AC=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1491525469 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        15:39638842 (GRCh38)
        15:39931043 (GRCh37)
        Canonical SPDI:
        NC_000015.10:39638841:AT:
        Gene:
        FSIP1 (Varview), LOC105370785 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000015/4 (TOPMED)
        HGVS:
        4.

        rs1491515147 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          15:39770635 (GRCh38)
          15:40062836 (GRCh37)
          Canonical SPDI:
          NC_000015.10:39770633:ACA:A
          Gene:
          FSIP1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          -=0.000021/3 (GnomAD_exomes)
          -=0.000034/3 (ExAC)
          -=0.000057/8 (GnomAD)
          -=0.000079/21 (TOPMED)
          HGVS:
          5.

          rs1491500317 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GC>- [Show Flanks]
            Chromosome:
            15:39712207 (GRCh38)
            15:40004408 (GRCh37)
            Canonical SPDI:
            NC_000015.10:39712206:GC:
            Gene:
            FSIP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.180089/805 (ALFA)
            -=0.179018/802 (Estonian)
            -=0.183333/110 (NorthernSweden)
            -=0.232627/32539 (GnomAD)
            -=0.265303/1699 (1000Genomes)
            -=0.286104/4795 (TOMMO)
            HGVS:
            6.

            rs1491487388 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              15:39744748 (GRCh38)
              15:40036949 (GRCh37)
              Canonical SPDI:
              NC_000015.10:39744746:TGT:T
              Gene:
              FSIP1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000337/4 (ALFA)
              -=0.000457/59 (GnomAD)
              HGVS:
              7.

              rs1491474186 has merged into rs36116816 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAA>-,A,AA,AAAA [Show Flanks]
                Chromosome:
                15:39662730 (GRCh38)
                15:39954931 (GRCh37)
                Canonical SPDI:
                NC_000015.10:39662719:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:39662719:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:39662719:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:39662719:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
                Gene:
                FSIP1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAA=0.0028/14 (ALFA)
                A=0.1243/479 (ALSPAC)
                A=0.125/5 (GENOME_DK)
                A=0.1386/514 (TWINSUK)
                A=0.1667/99 (NorthernSweden)
                A=0.3375/1690 (1000Genomes)
                HGVS:
                8.

                rs1491469453 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GA>- [Show Flanks]
                  Chromosome:
                  15:39662719 (GRCh38)
                  15:39954920 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:39662718:GA:
                  Gene:
                  FSIP1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.00002/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491426621 has merged into rs67193385 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->CACAA,CACACAGA,CAGTTCCCCATA [Show Flanks]
                    Chromosome:
                    15:39744810 (GRCh38)
                    15:40037012 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:39744810:A:ACACAA,NC_000015.10:39744810:A:ACACACAGA,NC_000015.10:39744810:A:ACAGTTCCCCATA
                    Gene:
                    FSIP1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ACACACAGA=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491425468 has merged into rs67203634 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>-,CC [Show Flanks]
                      Chromosome:
                      15:39626976 (GRCh38)
                      15:39919177 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:39626975:CCCCCC:CCCCC,NC_000015.10:39626975:CCCCCC:CCCCCCC
                      Gene:
                      FSIP1 (Varview), LOC105370785 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCCCCCC=0.000071/1 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1491423932 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        ->GTT
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1491414874 has merged into rs368981039 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TGTGTG>-,TGTG,TGTGTGTG [Show Flanks]
                          Chromosome:
                          15:39638849 (GRCh38)
                          15:39931050 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:39638842:TGTGTGTGTGTG:TGTGTG,NC_000015.10:39638842:TGTGTGTGTGTG:TGTGTGTGTG,NC_000015.10:39638842:TGTGTGTGTGTG:TGTGTGTGTGTGTG
                          Gene:
                          FSIP1 (Varview), LOC105370785 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TGTGTGTGTGTGTG=0./0 (ALFA)
                          TG=0.000037/5 (GnomAD)
                          HGVS:
                          13.

                          rs1491414687 has merged into rs34646792 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AA>-,A,AAA [Show Flanks]
                            Chromosome:
                            15:39738265 (GRCh38)
                            15:40030466 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:39738256:AAAAAAAAAA:AAAAAAAA,NC_000015.10:39738256:AAAAAAAAAA:AAAAAAAAA,NC_000015.10:39738256:AAAAAAAAAA:AAAAAAAAAAA
                            Gene:
                            FSIP1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAA=0./0 (ALFA)
                            -=0.069444/15 (Vietnamese)
                            -=0.164936/826 (1000Genomes)
                            -=0.260203/68873 (TOPMED)
                            -=0.372081/1434 (ALSPAC)
                            -=0.376753/1397 (TWINSUK)
                            -=0.377902/1693 (Estonian)
                            -=0.391784/391 (GoNL)
                            -=0.4/240 (NorthernSweden)
                            -=0.475/19 (GENOME_DK)
                            HGVS:
                            14.

                            rs1491345552 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              15:39648167 (GRCh38)
                              15:39940369 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:39648167:T:TT
                              Gene:
                              FSIP1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TT=0./0 (ALFA)
                              T=0.00007/1 (TOMMO)
                              HGVS:
                              15.

                              rs1491343774 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CG>- [Show Flanks]
                                Chromosome:
                                15:39638829 (GRCh38)
                                15:39931030 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:39638825:GCGCG:GCG
                                Gene:
                                FSIP1 (Varview), LOC105370785 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GCG=0.000071/1 (ALFA)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1491303806 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->G [Show Flanks]
                                  Chromosome:
                                  15:39738257 (GRCh38)
                                  15:40030459 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:39738257::G
                                  Gene:
                                  FSIP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1491294709 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    15:39714972 (GRCh38)
                                    15:40007173 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:39714971:CA:
                                    Gene:
                                    FSIP1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1491175316 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TA>- [Show Flanks]
                                      Chromosome:
                                      15:39648168 (GRCh38)
                                      15:39940369 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:39648166:ATA:A
                                      Gene:
                                      FSIP1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.00025/3 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491171734 has merged into rs35512322 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                        Chromosome:
                                        15:39614653 (GRCh38)
                                        15:39906854 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                        Gene:
                                        FSIP1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAAAA=0./0 (ALFA)
                                        AAA=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.39614653_39614663del, NC_000015.10:g.39614655_39614663del, NC_000015.10:g.39614659_39614663del, NC_000015.10:g.39614660_39614663del, NC_000015.10:g.39614661_39614663del, NC_000015.10:g.39614662_39614663del, NC_000015.10:g.39614663del, NC_000015.10:g.39614663dup, NC_000015.10:g.39614662_39614663dup, NC_000015.10:g.39614661_39614663dup, NC_000015.10:g.39614658_39614663dup, NC_000015.10:g.39614656_39614663dup, NC_000015.10:g.39614663_39614664insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.39906854_39906864del, NC_000015.9:g.39906856_39906864del, NC_000015.9:g.39906860_39906864del, NC_000015.9:g.39906861_39906864del, NC_000015.9:g.39906862_39906864del, NC_000015.9:g.39906863_39906864del, NC_000015.9:g.39906864del, NC_000015.9:g.39906864dup, NC_000015.9:g.39906863_39906864dup, NC_000015.9:g.39906862_39906864dup, NC_000015.9:g.39906859_39906864dup, NC_000015.9:g.39906857_39906864dup, NC_000015.9:g.39906864_39906865insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                        20.

                                        rs1491145169 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          CA>- [Show Flanks]
                                          Chromosome:
                                          15:39614644 (GRCh38)
                                          15:39906845 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:39614643:CA:
                                          Gene:
                                          FSIP1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.0054/64 (ALFA)
                                          -=0.00149/42 (TOMMO)
                                          HGVS:

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