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Items: 1 to 20 of 8608

1.

rs1491545313 has merged into rs150887826 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATATAT>-,ATAT,ATATATAT,ATATATATAT [Show Flanks]
    Chromosome:
    9:126835724 (GRCh38)
    9:129598003 (GRCh37)
    Canonical SPDI:
    NC_000009.12:126835715:ATATATATATATAT:ATATATAT,NC_000009.12:126835715:ATATATATATATAT:ATATATATATAT,NC_000009.12:126835715:ATATATATATATAT:ATATATATATATATAT,NC_000009.12:126835715:ATATATATATATAT:ATATATATATATATATAT
    Gene:
    ZBTB43 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATAT=0.000055/1 (ALFA)
    AT=0.000354/10 (TOMMO)
    AT=0.021861/140 (1000Genomes)
    AT=0.023106/6116 (TOPMED)
    HGVS:
    NC_000009.12:g.126835716AT[4], NC_000009.12:g.126835716AT[6], NC_000009.12:g.126835716AT[8], NC_000009.12:g.126835716AT[9], NC_000009.11:g.129597995AT[4], NC_000009.11:g.129597995AT[6], NC_000009.11:g.129597995AT[8], NC_000009.11:g.129597995AT[9], XM_005251835.4:c.*1803AT[4], XM_005251835.4:c.*1803AT[6], XM_005251835.4:c.*1803AT[8], XM_005251835.4:c.*1803AT[9], XM_005251835.3:c.*1803AT[4], XM_005251835.3:c.*1803AT[6], XM_005251835.3:c.*1803AT[8], XM_005251835.3:c.*1803AT[9], XM_005251835.2:c.*1803AT[4], XM_005251835.2:c.*1803AT[6], XM_005251835.2:c.*1803AT[8], XM_005251835.2:c.*1803AT[9], XM_005251835.1:c.*1803AT[4], XM_005251835.1:c.*1803AT[6], XM_005251835.1:c.*1803AT[8], XM_005251835.1:c.*1803AT[9], NM_014007.4:c.*1803AT[4], NM_014007.4:c.*1803AT[6], NM_014007.4:c.*1803AT[8], NM_014007.4:c.*1803AT[9], NM_014007.3:c.*1803AT[4], NM_014007.3:c.*1803AT[6], NM_014007.3:c.*1803AT[8], NM_014007.3:c.*1803AT[9], XM_011518411.3:c.*1803AT[4], XM_011518411.3:c.*1803AT[6], XM_011518411.3:c.*1803AT[8], XM_011518411.3:c.*1803AT[9], XM_011518411.2:c.*1803AT[4], XM_011518411.2:c.*1803AT[6], XM_011518411.2:c.*1803AT[8], XM_011518411.2:c.*1803AT[9], XM_011518411.1:c.*1803AT[4], XM_011518411.1:c.*1803AT[6], XM_011518411.1:c.*1803AT[8], XM_011518411.1:c.*1803AT[9], NM_001135776.2:c.*1803AT[4], NM_001135776.2:c.*1803AT[6], NM_001135776.2:c.*1803AT[8], NM_001135776.2:c.*1803AT[9], NM_001135776.1:c.*1803AT[4], NM_001135776.1:c.*1803AT[6], NM_001135776.1:c.*1803AT[8], NM_001135776.1:c.*1803AT[9], XM_047423032.1:c.*1803AT[4], XM_047423032.1:c.*1803AT[6], XM_047423032.1:c.*1803AT[8], XM_047423032.1:c.*1803AT[9], XM_047423031.1:c.*1803AT[4], XM_047423031.1:c.*1803AT[6], XM_047423031.1:c.*1803AT[8], XM_047423031.1:c.*1803AT[9], XM_011518409.1:c.*1803AT[4], XM_011518409.1:c.*1803AT[6], XM_011518409.1:c.*1803AT[8], XM_011518409.1:c.*1803AT[9]

    2.

    rs1491485905 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->TCTGT
      Chromosome:
      no mapping
      Canonical SPDI:

      3.

      rs1491467766 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        9:126828645 (GRCh38)
        9:129590924 (GRCh37)
        Canonical SPDI:
        NC_000009.12:126828644:AA:
        Gene:
        ZBTB43 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.000348/45 (GnomAD)
        -=0.001562/10 (1000Genomes)
        -=0.002442/41 (TOMMO)
        -=0.003337/6 (Korea1K)
        HGVS:

        4.

        rs1491458543 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TAT,TATTAGTAT,TATTAT,TATTATTAT,TATTATTATTAT,TATTATTATTATTAT,TATTATTATTATTATTAT,TATTATTATTATTATTATTAT,TATTATTATTATTATTATTATTAT [Show Flanks]
          Chromosome:
          9:126828645 (GRCh38)
          9:129590925 (GRCh37)
          Canonical SPDI:
          NC_000009.12:126828645:AT:ATTAT,NC_000009.12:126828645:AT:ATTATTAGTAT,NC_000009.12:126828645:AT:ATTATTAT,NC_000009.12:126828645:AT:ATTATTATTAT,NC_000009.12:126828645:AT:ATTATTATTATTAT,NC_000009.12:126828645:AT:ATTATTATTATTATTAT,NC_000009.12:126828645:AT:ATTATTATTATTATTATTAT,NC_000009.12:126828645:AT:ATTATTATTATTATTATTATTAT,NC_000009.12:126828645:AT:ATTATTATTATTATTATTATTATTAT
          Gene:
          ZBTB43 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          ATTATTAGTAT=0./0 (ALFA)
          HGVS:

          5.

          rs1491454281 has merged into rs1163411798 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            9:126810507 (GRCh38)
            9:129572786 (GRCh37)
            Canonical SPDI:
            NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:126810495:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            ZBTB43 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000009.12:g.126810507_126810519del, NC_000009.12:g.126810508_126810519del, NC_000009.12:g.126810509_126810519del, NC_000009.12:g.126810510_126810519del, NC_000009.12:g.126810511_126810519del, NC_000009.12:g.126810512_126810519del, NC_000009.12:g.126810513_126810519del, NC_000009.12:g.126810514_126810519del, NC_000009.12:g.126810515_126810519del, NC_000009.12:g.126810516_126810519del, NC_000009.12:g.126810517_126810519del, NC_000009.12:g.126810518_126810519del, NC_000009.12:g.126810519del, NC_000009.12:g.126810519dup, NC_000009.12:g.126810518_126810519dup, NC_000009.12:g.126810517_126810519dup, NC_000009.12:g.126810516_126810519dup, NC_000009.12:g.126810515_126810519dup, NC_000009.12:g.126810514_126810519dup, NC_000009.12:g.126810513_126810519dup, NC_000009.12:g.126810512_126810519dup, NC_000009.12:g.126810511_126810519dup, NC_000009.12:g.126810510_126810519dup, NC_000009.12:g.126810501_126810519dup, NC_000009.11:g.129572786_129572798del, NC_000009.11:g.129572787_129572798del, NC_000009.11:g.129572788_129572798del, NC_000009.11:g.129572789_129572798del, NC_000009.11:g.129572790_129572798del, NC_000009.11:g.129572791_129572798del, NC_000009.11:g.129572792_129572798del, NC_000009.11:g.129572793_129572798del, NC_000009.11:g.129572794_129572798del, NC_000009.11:g.129572795_129572798del, NC_000009.11:g.129572796_129572798del, NC_000009.11:g.129572797_129572798del, NC_000009.11:g.129572798del, NC_000009.11:g.129572798dup, NC_000009.11:g.129572797_129572798dup, NC_000009.11:g.129572796_129572798dup, NC_000009.11:g.129572795_129572798dup, NC_000009.11:g.129572794_129572798dup, NC_000009.11:g.129572793_129572798dup, NC_000009.11:g.129572792_129572798dup, NC_000009.11:g.129572791_129572798dup, NC_000009.11:g.129572790_129572798dup, NC_000009.11:g.129572789_129572798dup, NC_000009.11:g.129572780_129572798dup

            6.

            rs1491403386 has merged into rs949848584 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TATA>-,TA,TATATA,TATATATATA [Show Flanks]
              Chromosome:
              9:126815337 (GRCh38)
              9:129577616 (GRCh37)
              Canonical SPDI:
              NC_000009.12:126815330:TATATATATA:TATATA,NC_000009.12:126815330:TATATATATA:TATATATA,NC_000009.12:126815330:TATATATATA:TATATATATATA,NC_000009.12:126815330:TATATATATA:TATATATATATATATA
              Gene:
              ZBTB43 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              TATATATA=0./0 (ALFA)
              -=0.000009/1 (GnomAD)
              HGVS:

              7.

              rs1491379393 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TG>- [Show Flanks]
                Chromosome:
                9:126810519 (GRCh38)
                9:129572798 (GRCh37)
                Canonical SPDI:
                NC_000009.12:126810518:TG:
                Gene:
                ZBTB43 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000022/3 (GnomAD)
                HGVS:

                8.

                rs1491341368 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CT>- [Show Flanks]
                  Chromosome:
                  9:126815242 (GRCh38)
                  9:129577521 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:126815241:CT:
                  Gene:
                  ZBTB43 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.00011/5 (GnomAD)
                  HGVS:

                  9.

                  rs1491267786 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    9:126815330 (GRCh38)
                    9:129577609 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:126815329:CT:
                    Gene:
                    ZBTB43 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.002237/10 (ALFA)
                    -=0.000248/7 (TOMMO)
                    -=0.000341/45 (GnomAD)
                    HGVS:

                    10.

                    rs1491194564 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      9:126810496 (GRCh38)
                      9:129572776 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:126810496::C
                      Gene:
                      ZBTB43 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1491130598 has merged into rs5900724 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>-,T,TTT [Show Flanks]
                        Chromosome:
                        9:126829704 (GRCh38)
                        9:129591983 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:126829693:TTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:126829693:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:126829693:TTTTTTTTTTTT:TTTTTTTTTTTTT
                        Gene:
                        ZBTB43 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTTT=0./0 (ALFA)
                        T=0.184904/926 (1000Genomes)
                        T=0.2/8 (GENOME_DK)
                        T=0.225739/870 (ALSPAC)
                        T=0.231573/61295 (TOPMED)
                        T=0.235707/874 (TWINSUK)
                        T=0.241667/145 (NorthernSweden)
                        HGVS:

                        12.

                        rs1491123600 has merged into rs200516560 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
                          Chromosome:
                          9:126815669 (GRCh38)
                          9:129577948 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:126815658:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:126815658:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:126815658:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:126815658:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:126815658:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
                          Gene:
                          ZBTB43 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTT=0./0 (ALFA)
                          T=0.325/13 (GENOME_DK)
                          T=0.4521/264 (NorthernSweden)
                          T=0.4657/2332 (1000Genomes)
                          HGVS:

                          13.

                          rs1491110636 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->C [Show Flanks]
                            Chromosome:
                            9:126815659 (GRCh38)
                            9:129577939 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:126815659::C
                            Gene:
                            ZBTB43 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.00025/3 (ALFA)
                            C=0.00025/4 (TOMMO)
                            C=0.00119/30 (GnomAD)
                            HGVS:

                            14.

                            rs1491028226 has merged into rs36023653 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              9:126820978 (GRCh38)
                              9:129583257 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:126820967:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              ZBTB43 (Varview)
                              Functional Consequence:
                              intron_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAA=0./0 (ALFA)
                              HGVS:
                              NC_000009.12:g.126820978_126820987del, NC_000009.12:g.126820979_126820987del, NC_000009.12:g.126820980_126820987del, NC_000009.12:g.126820981_126820987del, NC_000009.12:g.126820982_126820987del, NC_000009.12:g.126820983_126820987del, NC_000009.12:g.126820984_126820987del, NC_000009.12:g.126820985_126820987del, NC_000009.12:g.126820986_126820987del, NC_000009.12:g.126820987del, NC_000009.12:g.126820987dup, NC_000009.12:g.126820986_126820987dup, NC_000009.12:g.126820985_126820987dup, NC_000009.12:g.126820984_126820987dup, NC_000009.12:g.126820983_126820987dup, NC_000009.12:g.126820982_126820987dup, NC_000009.12:g.126820981_126820987dup, NC_000009.12:g.126820980_126820987dup, NC_000009.12:g.126820979_126820987dup, NC_000009.12:g.126820978_126820987dup, NC_000009.11:g.129583257_129583266del, NC_000009.11:g.129583258_129583266del, NC_000009.11:g.129583259_129583266del, NC_000009.11:g.129583260_129583266del, NC_000009.11:g.129583261_129583266del, NC_000009.11:g.129583262_129583266del, NC_000009.11:g.129583263_129583266del, NC_000009.11:g.129583264_129583266del, NC_000009.11:g.129583265_129583266del, NC_000009.11:g.129583266del, NC_000009.11:g.129583266dup, NC_000009.11:g.129583265_129583266dup, NC_000009.11:g.129583264_129583266dup, NC_000009.11:g.129583263_129583266dup, NC_000009.11:g.129583262_129583266dup, NC_000009.11:g.129583261_129583266dup, NC_000009.11:g.129583260_129583266dup, NC_000009.11:g.129583259_129583266dup, NC_000009.11:g.129583258_129583266dup, NC_000009.11:g.129583257_129583266dup, XM_011518411.3:c.-1874_-1865del, XM_011518411.3:c.-1873_-1865del, XM_011518411.3:c.-1872_-1865del, XM_011518411.3:c.-1871_-1865del, XM_011518411.3:c.-1870_-1865del, XM_011518411.3:c.-1869_-1865del, XM_011518411.3:c.-1868_-1865del, XM_011518411.3:c.-1867_-1865del, XM_011518411.3:c.-1866_-1865del, XM_011518411.3:c.-1865del, XM_011518411.3:c.-1865dup, XM_011518411.3:c.-1866_-1865dup, XM_011518411.3:c.-1867_-1865dup, XM_011518411.3:c.-1868_-1865dup, XM_011518411.3:c.-1869_-1865dup, XM_011518411.3:c.-1870_-1865dup, XM_011518411.3:c.-1871_-1865dup, XM_011518411.3:c.-1872_-1865dup, XM_011518411.3:c.-1873_-1865dup, XM_011518411.3:c.-1874_-1865dup

                              15.

                              rs1491012125 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->AT [Show Flanks]
                                Chromosome:
                                9:126825844 (GRCh38)
                                9:129588124 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:126825844:T:TAT
                                Gene:
                                ZBTB43 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                TAT=0./0 (ALFA)
                                TA=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1490930965 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:126811471 (GRCh38)
                                  9:129573750 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:126811470:A:G
                                  Gene:
                                  ZBTB43 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000142/2 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490902045 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:126828541 (GRCh38)
                                    9:129590820 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:126828540:C:T
                                    Gene:
                                    ZBTB43 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490741982 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      9:126807630 (GRCh38)
                                      9:129569909 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:126807629:G:
                                      Gene:
                                      ZBTB43 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0.000071/1 (ALFA)
                                      -=0.000011/3 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490728637 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:126829968 (GRCh38)
                                        9:129592247 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:126829967:G:A
                                        Gene:
                                        ZBTB43 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000029/4 (GnomAD)
                                        A=0.00003/8 (TOPMED)
                                        A=0.000156/1 (1000Genomes)
                                        A=0.00308/9 (KOREAN)
                                        A=0.005202/87 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1490677998 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          9:126827781 (GRCh38)
                                          9:129590060 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:126827780:G:T
                                          Gene:
                                          ZBTB43 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000014/2 (GnomAD)
                                          T=0.000026/7 (TOPMED)
                                          T=0.000177/3 (TOMMO)
                                          T=0.000546/1 (Korea1K)
                                          HGVS:

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