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Items: 1 to 20 of 4894

1.

rs1491430425 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>-,CTCT [Show Flanks]
    Chromosome:
    20:56586246 (GRCh38)
    20:55161302 (GRCh37)
    Canonical SPDI:
    NC_000020.11:56586243:CTCT:CT,NC_000020.11:56586243:CTCT:CTCTCT
    Gene:
    LINC01716 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTCT=0.00092/14 (ALFA)
    -=0.00047/3 (1000Genomes)
    -=0.00083/78 (GnomAD)
    -=0.00609/101 (TOMMO)
    HGVS:
    2.

    rs1491354324 has merged into rs1173192228 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      20:56585908 (GRCh38)
      20:55160964 (GRCh37)
      Canonical SPDI:
      NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:56585898:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LINC01716 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAA=0./0 (ALFA)
      -=0.00003/8 (TOPMED)
      HGVS:
      NC_000020.11:g.56585908_56585917del, NC_000020.11:g.56585911_56585917del, NC_000020.11:g.56585912_56585917del, NC_000020.11:g.56585913_56585917del, NC_000020.11:g.56585914_56585917del, NC_000020.11:g.56585915_56585917del, NC_000020.11:g.56585916_56585917del, NC_000020.11:g.56585917del, NC_000020.11:g.56585917dup, NC_000020.11:g.56585916_56585917dup, NC_000020.11:g.56585915_56585917dup, NC_000020.11:g.56585914_56585917dup, NC_000020.11:g.56585913_56585917dup, NC_000020.11:g.56585912_56585917dup, NC_000020.11:g.56585911_56585917dup, NC_000020.11:g.56585910_56585917dup, NC_000020.11:g.56585909_56585917dup, NC_000020.11:g.56585908_56585917dup, NC_000020.11:g.56585907_56585917dup, NC_000020.11:g.56585906_56585917dup, NC_000020.11:g.56585905_56585917dup, NC_000020.11:g.56585904_56585917dup, NC_000020.11:g.56585903_56585917dup, NC_000020.11:g.56585902_56585917dup, NC_000020.11:g.56585901_56585917dup, NC_000020.11:g.56585900_56585917dup, NC_000020.11:g.56585899_56585917dup, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.11:g.56585917_56585918insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160964_55160973del, NC_000020.10:g.55160967_55160973del, NC_000020.10:g.55160968_55160973del, NC_000020.10:g.55160969_55160973del, NC_000020.10:g.55160970_55160973del, NC_000020.10:g.55160971_55160973del, NC_000020.10:g.55160972_55160973del, NC_000020.10:g.55160973del, NC_000020.10:g.55160973dup, NC_000020.10:g.55160972_55160973dup, NC_000020.10:g.55160971_55160973dup, NC_000020.10:g.55160970_55160973dup, NC_000020.10:g.55160969_55160973dup, NC_000020.10:g.55160968_55160973dup, NC_000020.10:g.55160967_55160973dup, NC_000020.10:g.55160966_55160973dup, NC_000020.10:g.55160965_55160973dup, NC_000020.10:g.55160964_55160973dup, NC_000020.10:g.55160963_55160973dup, NC_000020.10:g.55160962_55160973dup, NC_000020.10:g.55160961_55160973dup, NC_000020.10:g.55160960_55160973dup, NC_000020.10:g.55160959_55160973dup, NC_000020.10:g.55160958_55160973dup, NC_000020.10:g.55160957_55160973dup, NC_000020.10:g.55160956_55160973dup, NC_000020.10:g.55160955_55160973dup, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.55160973_55160974insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491271692 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->GAAAAAAAAAAAA
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491257815 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->AGTGTGTGTG [Show Flanks]
          Chromosome:
          20:56586247 (GRCh38)
          20:55161304 (GRCh37)
          Canonical SPDI:
          NC_000020.11:56586247:GTGTGTGTG:GTGTGTGTGAGTGTGTGTG
          Gene:
          LINC01716 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGTGTGTGAGTGTGTGTG=0.00135/16 (ALFA)
          GTGTGTGTGA=0.00896/189 (GnomAD)
          HGVS:
          5.

          rs1491230149 has merged into rs149210176 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TGTGTGTGTGTGTGTGTGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
            Chromosome:
            20:56586263 (GRCh38)
            20:55161319 (GRCh37)
            Canonical SPDI:
            NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000020.11:56586246:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
            Gene:
            LINC01716 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TGTGTGTGTGTGTGTGTG=0./0 (ALFA)
            HGVS:
            NC_000020.11:g.56586247TG[8], NC_000020.11:g.56586247TG[9], NC_000020.11:g.56586247TG[11], NC_000020.11:g.56586247TG[12], NC_000020.11:g.56586247TG[13], NC_000020.11:g.56586247TG[14], NC_000020.11:g.56586247TG[15], NC_000020.11:g.56586247TG[16], NC_000020.11:g.56586247TG[17], NC_000020.11:g.56586247TG[19], NC_000020.11:g.56586247TG[20], NC_000020.11:g.56586247TG[21], NC_000020.11:g.56586247TG[22], NC_000020.11:g.56586247TG[23], NC_000020.11:g.56586247TG[24], NC_000020.11:g.56586247TG[25], NC_000020.11:g.56586247TG[26], NC_000020.11:g.56586247TG[27], NC_000020.11:g.56586247TG[28], NC_000020.10:g.55161303TG[8], NC_000020.10:g.55161303TG[9], NC_000020.10:g.55161303TG[11], NC_000020.10:g.55161303TG[12], NC_000020.10:g.55161303TG[13], NC_000020.10:g.55161303TG[14], NC_000020.10:g.55161303TG[15], NC_000020.10:g.55161303TG[16], NC_000020.10:g.55161303TG[17], NC_000020.10:g.55161303TG[19], NC_000020.10:g.55161303TG[20], NC_000020.10:g.55161303TG[21], NC_000020.10:g.55161303TG[22], NC_000020.10:g.55161303TG[23], NC_000020.10:g.55161303TG[24], NC_000020.10:g.55161303TG[25], NC_000020.10:g.55161303TG[26], NC_000020.10:g.55161303TG[27], NC_000020.10:g.55161303TG[28]
            6.

            rs1491229985 has merged into rs10580301 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
              Chromosome:
              20:56576997 (GRCh38)
              20:55152053 (GRCh37)
              Canonical SPDI:
              NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:56576984:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
              Gene:
              LINC01716 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAA=0.0052/31 (ALFA)
              AA=0.2827/1416 (1000Genomes)
              HGVS:
              7.

              rs1491228209 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                20:56576999 (GRCh38)
                20:55152056 (GRCh37)
                Canonical SPDI:
                NC_000020.11:56576999::G
                Gene:
                LINC01716 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000084/1 (ALFA)
                G=0.000016/2 (GnomAD)
                HGVS:
                8.

                rs1491177931 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  20:56576984 (GRCh38)
                  20:55152040 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:56576983:CA:
                  Gene:
                  LINC01716 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.00006/5 (GnomAD)
                  HGVS:
                  9.

                  rs1491044144 has merged into rs11474428 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                    Chromosome:
                    20:56578676 (GRCh38)
                    20:55153732 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:56578666:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
                    Gene:
                    LINC01716 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAA=0./0 (ALFA)
                    -=0.233/1167 (1000Genomes)
                    HGVS:
                    10.

                    rs1491006049 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GT>- [Show Flanks]
                      Chromosome:
                      20:56590542 (GRCh38)
                      20:55165598 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:56590540:TGT:T
                      Gene:
                      LINC01716 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000084/1 (ALFA)
                      -=0.000179/25 (GnomAD)
                      -=0.000468/3 (1000Genomes)
                      HGVS:
                      11.

                      rs1490852824 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:56584951 (GRCh38)
                        20:55160007 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:56584950:G:A
                        Gene:
                        LINC01716 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490599830 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TGTTT>-,TGTTTTGTTT [Show Flanks]
                          Chromosome:
                          20:56580892 (GRCh38)
                          20:55155948 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:56580878:TTTTGTTTTGTTTTGTTT:TTTTGTTTTGTTT,NC_000020.11:56580878:TTTTGTTTTGTTTTGTTT:TTTTGTTTTGTTTTGTTTTGTTT
                          Gene:
                          LINC01716 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTGTTTTGTTTTGTTTTGTTT=0./0 (ALFA)
                          TTTTG=0.000004/1 (TOPMED)
                          TTTTG=0.000007/1 (GnomAD)
                          -=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1490511205 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            20:56585574 (GRCh38)
                            20:55160630 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:56585573:C:A,NC_000020.11:56585573:C:G
                            Gene:
                            LINC01716 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490474793 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              20:56587348 (GRCh38)
                              20:55162404 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:56587347:C:G
                              Gene:
                              LINC01716 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490270252 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                20:56581767 (GRCh38)
                                20:55156823 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:56581766:C:T
                                Gene:
                                LINC01716 (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:
                                16.

                                rs1490231309 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  20:56595500 (GRCh38)
                                  20:55170556 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:56595499:G:A
                                  Gene:
                                  LINC01716 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490042159 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:56584196 (GRCh38)
                                    20:55159252 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:56584195:G:A
                                    Gene:
                                    LINC01716 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000054/1 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000015/4 (TOPMED)
                                    A=0.000223/1 (Estonian)
                                    HGVS:
                                    18.

                                    rs1489890883 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      20:56588019 (GRCh38)
                                      20:55163075 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:56588018:A:T
                                      Gene:
                                      LINC01716 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489878314 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        20:56576101 (GRCh38)
                                        20:55151157 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:56576100:C:T
                                        Gene:
                                        LINC01716 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        HGVS:
                                        20.

                                        rs1489832237 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          20:56580395 (GRCh38)
                                          20:55155451 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:56580394:T:C
                                          Gene:
                                          LINC01716 (Varview)
                                          Functional Consequence:
                                          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:

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