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Items: 1 to 20 of 8430

1.

rs1491585745 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->CTC [Show Flanks]
    Chromosome:
    1:15977335 (GRCh38)
    1:16303831 (GRCh37)
    Canonical SPDI:
    NC_000001.11:15977335::CTC
    Gene:
    ZBTB17 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    CTC=0.0007/3 (ALFA)
    HGVS:
    2.

    rs1491429319 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      1:15977339 (GRCh38)
      1:16303835 (GRCh37)
      Canonical SPDI:
      NC_000001.11:15977339::C
      Gene:
      ZBTB17 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.00007/1 (ALFA)
      C=0.00006/3 (GnomAD)
      HGVS:
      3.

      rs1491391361 has merged into rs36032253 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
        Chromosome:
        1:15977347 (GRCh38)
        1:16303842 (GRCh37)
        Canonical SPDI:
        NC_000001.11:15977338:TTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:15977338:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:15977338:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:15977338:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:15977338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:15977338:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
        Gene:
        ZBTB17 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        4.

        rs1491370399 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          1:15974203 (GRCh38)
          1:16300698 (GRCh37)
          Canonical SPDI:
          NC_000001.11:15974201:ACA:A
          Gene:
          ZBTB17 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          -=0.00025/34 (GnomAD)
          -=0.317422/1177 (TWINSUK)
          -=0.318889/1229 (ALSPAC)
          HGVS:
          5.

          rs1491359707 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            1:15974348 (GRCh38)
            1:16300844 (GRCh37)
            Canonical SPDI:
            NC_000001.11:15974348::C
            Gene:
            ZBTB17 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1491309173 has merged into rs71003227 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              1:15977632 (GRCh38)
              1:16304127 (GRCh37)
              Canonical SPDI:
              NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15977622:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              ZBTB17 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000001.11:g.15977632_15977647del, NC_000001.11:g.15977633_15977647del, NC_000001.11:g.15977635_15977647del, NC_000001.11:g.15977636_15977647del, NC_000001.11:g.15977637_15977647del, NC_000001.11:g.15977638_15977647del, NC_000001.11:g.15977639_15977647del, NC_000001.11:g.15977640_15977647del, NC_000001.11:g.15977641_15977647del, NC_000001.11:g.15977642_15977647del, NC_000001.11:g.15977643_15977647del, NC_000001.11:g.15977645_15977647del, NC_000001.11:g.15977646_15977647del, NC_000001.11:g.15977647del, NC_000001.11:g.15977647dup, NC_000001.11:g.15977646_15977647dup, NC_000001.11:g.15977645_15977647dup, NC_000001.11:g.15977644_15977647dup, NC_000001.11:g.15977643_15977647dup, NC_000001.11:g.15977642_15977647dup, NC_000001.11:g.15977641_15977647dup, NC_000001.11:g.15977640_15977647dup, NC_000001.11:g.15977639_15977647dup, NC_000001.11:g.15977638_15977647dup, NC_000001.11:g.15977637_15977647dup, NC_000001.11:g.15977636_15977647dup, NC_000001.11:g.15977635_15977647dup, NC_000001.11:g.15977634_15977647dup, NC_000001.11:g.15977633_15977647dup, NC_000001.11:g.15977627_15977647dup, NC_000001.10:g.16304127_16304142del, NC_000001.10:g.16304128_16304142del, NC_000001.10:g.16304130_16304142del, NC_000001.10:g.16304131_16304142del, NC_000001.10:g.16304132_16304142del, NC_000001.10:g.16304133_16304142del, NC_000001.10:g.16304134_16304142del, NC_000001.10:g.16304135_16304142del, NC_000001.10:g.16304136_16304142del, NC_000001.10:g.16304137_16304142del, NC_000001.10:g.16304138_16304142del, NC_000001.10:g.16304140_16304142del, NC_000001.10:g.16304141_16304142del, NC_000001.10:g.16304142del, NC_000001.10:g.16304142dup, NC_000001.10:g.16304141_16304142dup, NC_000001.10:g.16304140_16304142dup, NC_000001.10:g.16304139_16304142dup, NC_000001.10:g.16304138_16304142dup, NC_000001.10:g.16304137_16304142dup, NC_000001.10:g.16304136_16304142dup, NC_000001.10:g.16304135_16304142dup, NC_000001.10:g.16304134_16304142dup, NC_000001.10:g.16304133_16304142dup, NC_000001.10:g.16304132_16304142dup, NC_000001.10:g.16304131_16304142dup, NC_000001.10:g.16304130_16304142dup, NC_000001.10:g.16304129_16304142dup, NC_000001.10:g.16304128_16304142dup, NC_000001.10:g.16304122_16304142dup
              7.

              rs1491287771 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->GTCCT [Show Flanks]
                Chromosome:
                1:15977623 (GRCh38)
                1:16304119 (GRCh37)
                Canonical SPDI:
                NC_000001.11:15977623:T:TGTCCT
                Gene:
                ZBTB17 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                HGVS:
                8.

                rs1491253779 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AA>- [Show Flanks]
                  Chromosome:
                  1:15971361 (GRCh38)
                  1:16297856 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:15971360:AA:
                  Gene:
                  ZBTB17 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.005901/70 (ALFA)
                  -=0.001557/26 (TOMMO)
                  -=0.00689/885 (GnomAD)
                  -=0.009681/62 (1000Genomes)
                  HGVS:
                  9.

                  rs1491136901 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TATA>-,TA,TATATA [Show Flanks]
                    Chromosome:
                    1:15971371 (GRCh38)
                    1:16297866 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:15971361:ATATATATATATA:ATATATATA,NC_000001.11:15971361:ATATATATATATA:ATATATATATA,NC_000001.11:15971361:ATATATATATATA:ATATATATATATATA
                    Gene:
                    ZBTB17 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATATATATATATATA=0./0 (ALFA)
                    -=0.01093/20 (Korea1K)
                    HGVS:
                    10.

                    rs1491062049 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CACACATATA [Show Flanks]
                      Chromosome:
                      1:15971494 (GRCh38)
                      1:16297990 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:15971494:ATATA:ATATACACACATATA
                      Gene:
                      ZBTB17 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      HGVS:
                      11.

                      rs1491007482 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        1:15941733 (GRCh38)
                        1:16268229 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:15941733:T:TT
                        Gene:
                        ZBTB17 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TT=0.0002/1 (ALFA)
                        T=0.0002/1 (Estonian)
                        HGVS:
                        12.

                        rs1490988014 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTAT>- [Show Flanks]
                          Chromosome:
                          1:15959432 (GRCh38)
                          1:16285927 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:15959427:CTATCTAT:CTAT
                          Gene:
                          ZBTB17 (Varview), LOC124903855 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CTATCTAT=0./0 (ALFA)
                          -=0.000021/3 (GnomAD)
                          -=0.000057/15 (TOPMED)
                          HGVS:
                          13.

                          rs1490973214 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:15962285 (GRCh38)
                            1:16288780 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:15962284:G:A
                            Gene:
                            ZBTB17 (Varview), LOC124903855 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490904694 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:15974470 (GRCh38)
                              1:16300965 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:15974469:G:A
                              Gene:
                              ZBTB17 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490652194 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:15966524 (GRCh38)
                                1:16293019 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:15966523:C:T
                                Gene:
                                ZBTB17 (Varview), LOC124903855 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1490596013 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:15965215 (GRCh38)
                                  1:16291710 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:15965214:T:C
                                  Gene:
                                  ZBTB17 (Varview), LOC124903855 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490578711 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    1:15949697 (GRCh38)
                                    1:16276192 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:15949696:G:C,NC_000001.11:15949696:G:T
                                    Gene:
                                    ZBTB17 (Varview), LOC124903855 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490498281 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:15958314 (GRCh38)
                                      1:16284809 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:15958313:A:G
                                      Gene:
                                      ZBTB17 (Varview), LOC124903855 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490467154 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        1:15941643 (GRCh38)
                                        1:16268139 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:15941643:A:AA
                                        Gene:
                                        ZBTB17 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        AA=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490249910 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:15950436 (GRCh38)
                                          1:16276931 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:15950435:G:A
                                          Gene:
                                          ZBTB17 (Varview), LOC124903855 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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