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Items: 1 to 20 of 1000

1.

rs1491586415 has merged into rs200054294 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
    Chromosome:
    19:21941584 (GRCh38)
    19:22124386 (GRCh37)
    Canonical SPDI:
    NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
    Gene:
    ZNF208 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTT=0./0 (ALFA)
    -=0.01297/50 (ALSPAC)
    T=0.15256/182 (1000Genomes)
    HGVS:
    2.

    rs1491573728 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->CT [Show Flanks]
      Chromosome:
      19:21956020 (GRCh38)
      19:22138823 (GRCh37)
      Canonical SPDI:
      NC_000019.10:21956020::CT
      Gene:
      ZNF208 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      CT=0.00012/2 (TOMMO)
      CT=0.00055/1 (Korea1K)
      HGVS:
      3.

      rs1491524910 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        19:22001890 (GRCh38)
        19:22184693 (GRCh37)
        Canonical SPDI:
        NC_000019.10:22001890::T
        Gene:
        ZNF208 (Varview), LOC124904672 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.00556/66 (ALFA)
        T=0.00063/9 (TOMMO)
        T=0.00195/3 (Korea1K)
        T=0.00617/3 (NorthernSweden)
        T=0.05487/867 (GnomAD)
        HGVS:
        4.

        rs1491477892 has merged into rs58769307 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          19:22007515 (GRCh38)
          19:22190317 (GRCh37)
          Canonical SPDI:
          NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          ZNF208 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000019.10:g.22007515_22007530del, NC_000019.10:g.22007517_22007530del, NC_000019.10:g.22007518_22007530del, NC_000019.10:g.22007519_22007530del, NC_000019.10:g.22007520_22007530del, NC_000019.10:g.22007521_22007530del, NC_000019.10:g.22007522_22007530del, NC_000019.10:g.22007523_22007530del, NC_000019.10:g.22007524_22007530del, NC_000019.10:g.22007525_22007530del, NC_000019.10:g.22007526_22007530del, NC_000019.10:g.22007527_22007530del, NC_000019.10:g.22007528_22007530del, NC_000019.10:g.22007529_22007530del, NC_000019.10:g.22007530del, NC_000019.10:g.22007530dup, NC_000019.10:g.22007529_22007530dup, NC_000019.10:g.22007528_22007530dup, NC_000019.10:g.22007527_22007530dup, NC_000019.10:g.22007526_22007530dup, NC_000019.10:g.22007525_22007530dup, NC_000019.10:g.22007524_22007530dup, NC_000019.10:g.22007523_22007530dup, NC_000019.10:g.22007517_22007530dup, NC_000019.10:g.22007510_22007530dup, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190317_22190332del, NC_000019.9:g.22190319_22190332del, NC_000019.9:g.22190320_22190332del, NC_000019.9:g.22190321_22190332del, NC_000019.9:g.22190322_22190332del, NC_000019.9:g.22190323_22190332del, NC_000019.9:g.22190324_22190332del, NC_000019.9:g.22190325_22190332del, NC_000019.9:g.22190326_22190332del, NC_000019.9:g.22190327_22190332del, NC_000019.9:g.22190328_22190332del, NC_000019.9:g.22190329_22190332del, NC_000019.9:g.22190330_22190332del, NC_000019.9:g.22190331_22190332del, NC_000019.9:g.22190332del, NC_000019.9:g.22190332dup, NC_000019.9:g.22190331_22190332dup, NC_000019.9:g.22190330_22190332dup, NC_000019.9:g.22190329_22190332dup, NC_000019.9:g.22190328_22190332dup, NC_000019.9:g.22190327_22190332dup, NC_000019.9:g.22190326_22190332dup, NC_000019.9:g.22190325_22190332dup, NC_000019.9:g.22190319_22190332dup, NC_000019.9:g.22190312_22190332dup, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491470817 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            19:21982357 (GRCh38)
            19:22165159 (GRCh37)
            Canonical SPDI:
            NC_000019.10:21982356:CA:
            Gene:
            ZNF208 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491463699 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              GG>-
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1491445121 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                19:22001889 (GRCh38)
                19:22184692 (GRCh37)
                Canonical SPDI:
                NC_000019.10:22001889:CCC:CCCC
                Gene:
                ZNF208 (Varview), LOC124904672 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                HGVS:
                8.

                rs1491341279 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->TATG [Show Flanks]
                  Chromosome:
                  19:21945476 (GRCh38)
                  19:22128279 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:21945476::TATG
                  Gene:
                  ZNF208 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TATG=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491323376 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    19:21975824 (GRCh38)
                    19:22158627 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:21975824::G
                    Gene:
                    ZNF208 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.00053/15 (GnomAD)
                    G=0.00168/1 (NorthernSweden)
                    HGVS:
                    10.

                    rs1491313504 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      19:22007506 (GRCh38)
                      19:22190309 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:22007506::G
                      Gene:
                      ZNF208 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491290043 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        19:21998128 (GRCh38)
                        19:22180931 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:21998128::C
                        Gene:
                        ZNF208 (Varview), LOC124904672 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.00007/1 (ALFA)
                        HGVS:
                        12.

                        rs1491202752 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          19:22007505 (GRCh38)
                          19:22190307 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:22007504:CA:
                          Gene:
                          ZNF208 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.01366/162 (ALFA)
                          -=0.00364/101 (TOMMO)
                          HGVS:
                          13.

                          rs1491192197 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->C,T,TT,TTAT,TTATTAT,TTATTATTAT,TTATTATTATTAT,TTATTATTATTATTAT,TTATTATTATTATTATTAT,TTATTATTATTATTATTATTAT,TTATTATTATTATTATTATTATTAT [Show Flanks]
                            Chromosome:
                            19:22011777 (GRCh38)
                            19:22194580 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:22011777::C,NC_000019.10:22011777::T,NC_000019.10:22011777::TT,NC_000019.10:22011777::TTAT,NC_000019.10:22011777::TTATTAT,NC_000019.10:22011777::TTATTATTAT,NC_000019.10:22011777::TTATTATTATTAT,NC_000019.10:22011777::TTATTATTATTATTAT,NC_000019.10:22011777::TTATTATTATTATTATTAT,NC_000019.10:22011777::TTATTATTATTATTATTATTAT,NC_000019.10:22011777::TTATTATTATTATTATTATTATTAT
                            Gene:
                            ZNF208 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTAT=0./0 (ALFA)
                            TT=0.00187/12 (1000Genomes)
                            HGVS:
                            NC_000019.10:g.22011777_22011778insC, NC_000019.10:g.22011777_22011778insT, NC_000019.10:g.22011777_22011778insTT, NC_000019.10:g.22011777_22011778insTTAT, NC_000019.10:g.22011777_22011778insTTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTATTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTATTATTATTATTAT, NC_000019.9:g.22194579_22194580insC, NC_000019.9:g.22194579_22194580insT, NC_000019.9:g.22194579_22194580insTT, NC_000019.9:g.22194579_22194580insTTAT, NC_000019.9:g.22194579_22194580insTTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTATTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTATTATTATTATTAT
                            14.

                            rs1491181998 has merged into rs58769307 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              19:22007515 (GRCh38)
                              19:22190317 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              ZNF208 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAA=0./0 (ALFA)
                              HGVS:
                              NC_000019.10:g.22007515_22007530del, NC_000019.10:g.22007517_22007530del, NC_000019.10:g.22007518_22007530del, NC_000019.10:g.22007519_22007530del, NC_000019.10:g.22007520_22007530del, NC_000019.10:g.22007521_22007530del, NC_000019.10:g.22007522_22007530del, NC_000019.10:g.22007523_22007530del, NC_000019.10:g.22007524_22007530del, NC_000019.10:g.22007525_22007530del, NC_000019.10:g.22007526_22007530del, NC_000019.10:g.22007527_22007530del, NC_000019.10:g.22007528_22007530del, NC_000019.10:g.22007529_22007530del, NC_000019.10:g.22007530del, NC_000019.10:g.22007530dup, NC_000019.10:g.22007529_22007530dup, NC_000019.10:g.22007528_22007530dup, NC_000019.10:g.22007527_22007530dup, NC_000019.10:g.22007526_22007530dup, NC_000019.10:g.22007525_22007530dup, NC_000019.10:g.22007524_22007530dup, NC_000019.10:g.22007523_22007530dup, NC_000019.10:g.22007517_22007530dup, NC_000019.10:g.22007510_22007530dup, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190317_22190332del, NC_000019.9:g.22190319_22190332del, NC_000019.9:g.22190320_22190332del, NC_000019.9:g.22190321_22190332del, NC_000019.9:g.22190322_22190332del, NC_000019.9:g.22190323_22190332del, NC_000019.9:g.22190324_22190332del, NC_000019.9:g.22190325_22190332del, NC_000019.9:g.22190326_22190332del, NC_000019.9:g.22190327_22190332del, NC_000019.9:g.22190328_22190332del, NC_000019.9:g.22190329_22190332del, NC_000019.9:g.22190330_22190332del, NC_000019.9:g.22190331_22190332del, NC_000019.9:g.22190332del, NC_000019.9:g.22190332dup, NC_000019.9:g.22190331_22190332dup, NC_000019.9:g.22190330_22190332dup, NC_000019.9:g.22190329_22190332dup, NC_000019.9:g.22190328_22190332dup, NC_000019.9:g.22190327_22190332dup, NC_000019.9:g.22190326_22190332dup, NC_000019.9:g.22190325_22190332dup, NC_000019.9:g.22190319_22190332dup, NC_000019.9:g.22190312_22190332dup, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              15.

                              rs1491176485 has merged into rs547717166 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CA>-,CACA [Show Flanks]
                                Chromosome:
                                19:21975911 (GRCh38)
                                19:22158713 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:21975909:ACA:A,NC_000019.10:21975909:ACA:ACACA
                                Gene:
                                ZNF208 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.04713/559 (ALFA)
                                -=0.00081/13 (TOMMO)
                                -=0.0308/17 (NorthernSweden)
                                -=0.05918/296 (1000Genomes)
                                -=0.0754/7277 (GnomAD)
                                AC=0.43888/438 (GoNL)
                                HGVS:
                                16.

                                rs1491143293 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AA>- [Show Flanks]
                                  Chromosome:
                                  19:22011778 (GRCh38)
                                  19:22194580 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:22011776:AAA:A
                                  Gene:
                                  ZNF208 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  -=0.00021/17 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491086280 has merged into rs34234040 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    19:21982366 (GRCh38)
                                    19:22165168 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    ZNF208 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAAAAAA=0./0 (ALFA)
                                    -=0.4529/2268 (1000Genomes)
                                    HGVS:
                                    NC_000019.10:g.21982366_21982375del, NC_000019.10:g.21982371_21982375del, NC_000019.10:g.21982372_21982375del, NC_000019.10:g.21982373_21982375del, NC_000019.10:g.21982374_21982375del, NC_000019.10:g.21982375del, NC_000019.10:g.21982375dup, NC_000019.10:g.21982374_21982375dup, NC_000019.10:g.21982373_21982375dup, NC_000019.10:g.21982372_21982375dup, NC_000019.10:g.21982370_21982375dup, NC_000019.10:g.21982369_21982375dup, NC_000019.10:g.21982367_21982375dup, NC_000019.9:g.22165168_22165177del, NC_000019.9:g.22165173_22165177del, NC_000019.9:g.22165174_22165177del, NC_000019.9:g.22165175_22165177del, NC_000019.9:g.22165176_22165177del, NC_000019.9:g.22165177del, NC_000019.9:g.22165177dup, NC_000019.9:g.22165176_22165177dup, NC_000019.9:g.22165175_22165177dup, NC_000019.9:g.22165174_22165177dup, NC_000019.9:g.22165172_22165177dup, NC_000019.9:g.22165171_22165177dup, NC_000019.9:g.22165169_22165177dup
                                    18.

                                    rs1491051627 has merged into rs139821713 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      19:22008020 (GRCh38)
                                      19:22190822 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      ZNF208 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAAAAAA=0./0 (ALFA)
                                      A=0.2554/1279 (1000Genomes)
                                      HGVS:
                                      NC_000019.10:g.22008020_22008021del, NC_000019.10:g.22008021del, NC_000019.10:g.22008021dup, NC_000019.10:g.22008020_22008021dup, NC_000019.10:g.22008019_22008021dup, NC_000019.10:g.22008018_22008021dup, NC_000019.10:g.22008017_22008021dup, NC_000019.10:g.22008016_22008021dup, NC_000019.10:g.22008015_22008021dup, NC_000019.10:g.22008013_22008021dup, NC_000019.10:g.22008012_22008021dup, NC_000019.10:g.22008011_22008021dup, NC_000019.9:g.22190822_22190823del, NC_000019.9:g.22190823del, NC_000019.9:g.22190823dup, NC_000019.9:g.22190822_22190823dup, NC_000019.9:g.22190821_22190823dup, NC_000019.9:g.22190820_22190823dup, NC_000019.9:g.22190819_22190823dup, NC_000019.9:g.22190818_22190823dup, NC_000019.9:g.22190817_22190823dup, NC_000019.9:g.22190815_22190823dup, NC_000019.9:g.22190814_22190823dup, NC_000019.9:g.22190813_22190823dup
                                      19.

                                      rs1491038965 has merged into rs71180503 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                        Chromosome:
                                        19:22008308 (GRCh38)
                                        19:22191110 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                        Gene:
                                        ZNF208 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAA=0./0 (ALFA)
                                        HGVS:
                                        NC_000019.10:g.22008308_22008316del, NC_000019.10:g.22008310_22008316del, NC_000019.10:g.22008311_22008316del, NC_000019.10:g.22008314_22008316del, NC_000019.10:g.22008315_22008316del, NC_000019.10:g.22008316del, NC_000019.10:g.22008316dup, NC_000019.10:g.22008315_22008316dup, NC_000019.10:g.22008314_22008316dup, NC_000019.10:g.22008313_22008316dup, NC_000019.10:g.22008312_22008316dup, NC_000019.10:g.22008311_22008316dup, NC_000019.10:g.22008310_22008316dup, NC_000019.10:g.22008309_22008316dup, NC_000019.10:g.22008308_22008316dup, NC_000019.10:g.22008307_22008316dup, NC_000019.10:g.22008303_22008316dup, NC_000019.9:g.22191110_22191118del, NC_000019.9:g.22191112_22191118del, NC_000019.9:g.22191113_22191118del, NC_000019.9:g.22191116_22191118del, NC_000019.9:g.22191117_22191118del, NC_000019.9:g.22191118del, NC_000019.9:g.22191118dup, NC_000019.9:g.22191117_22191118dup, NC_000019.9:g.22191116_22191118dup, NC_000019.9:g.22191115_22191118dup, NC_000019.9:g.22191114_22191118dup, NC_000019.9:g.22191113_22191118dup, NC_000019.9:g.22191112_22191118dup, NC_000019.9:g.22191111_22191118dup, NC_000019.9:g.22191110_22191118dup, NC_000019.9:g.22191109_22191118dup, NC_000019.9:g.22191105_22191118dup
                                        20.

                                        rs1491020313 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          AT>- [Show Flanks]
                                          Chromosome:
                                          19:22009764 (GRCh38)
                                          19:22192566 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:22009763:AT:
                                          Gene:
                                          ZNF208 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000029/4 (GnomAD)
                                          HGVS:

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