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Items: 1 to 20 of 128

1.

rs1490809182 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    1:32627514 (GRCh38)
    1:33093115 (GRCh37)
    Canonical SPDI:
    NC_000001.11:32627513:G:A,NC_000001.11:32627513:G:C
    Gene:
    ZBTB8OS (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.32627514G>A, NC_000001.11:g.32627514G>C, NC_000001.10:g.33093115G>A, NC_000001.10:g.33093115G>C, NM_178547.5:c.411C>T, NM_178547.5:c.411C>G, NM_178547.4:c.447C>T, NM_178547.4:c.447C>G, NM_178547.3:c.447C>T, NM_178547.3:c.447C>G, NM_178547.2:c.447C>T, NM_178547.2:c.447C>G, XM_017001136.3:c.246C>T, XM_017001136.3:c.246C>G, XM_017001136.2:c.246C>T, XM_017001136.2:c.246C>G, XM_017001136.1:c.246C>T, XM_017001136.1:c.246C>G, NM_001330475.2:c.303C>T, NM_001330475.2:c.303C>G, NM_001330475.1:c.303C>T, NM_001330475.1:c.303C>G, NM_001308138.2:c.240C>T, NM_001308138.2:c.240C>G, NM_001308138.1:c.240C>T, NM_001308138.1:c.240C>G, NM_001308139.2:c.240C>T, NM_001308139.2:c.240C>G, NM_001308139.1:c.240C>T, NM_001308139.1:c.240C>G, NM_001308140.2:c.240C>T, NM_001308140.2:c.240C>G, NM_001308140.1:c.240C>T, NM_001308140.1:c.240C>G, NM_001308141.2:c.240C>T, NM_001308141.2:c.240C>G, NM_001308141.1:c.240C>T, NM_001308141.1:c.240C>G, NM_001308135.2:c.426C>T, NM_001308135.2:c.426C>G, NM_001308135.1:c.426C>T, NM_001308135.1:c.426C>G, NM_001308136.2:c.394C>T, NM_001308136.2:c.394C>G, NM_001308136.1:c.394C>T, NM_001308136.1:c.394C>G, NM_001308137.2:c.373C>T, NM_001308137.2:c.373C>G, NM_001308137.1:c.373C>T, NM_001308137.1:c.373C>G, NR_158779.1:n.1017C>T, NR_158779.1:n.1017C>G, NR_158778.1:n.941C>T, NR_158778.1:n.941C>G, NR_158774.1:n.927C>T, NR_158774.1:n.927C>G, NM_001366258.1:c.240C>T, NM_001366258.1:c.240C>G, NM_001366255.1:c.303C>T, NM_001366255.1:c.303C>G, NM_001366268.1:c.276C>T, NM_001366268.1:c.276C>G, NM_001366259.1:c.240C>T, NM_001366259.1:c.240C>G, NR_158772.1:n.865C>T, NR_158772.1:n.865C>G, NM_001366260.1:c.240C>T, NM_001366260.1:c.240C>G, NM_001366264.1:c.483C>T, NM_001366264.1:c.483C>G, NM_001366269.1:c.250C>T, NM_001366269.1:c.250C>G, NM_001366263.1:c.240C>T, NM_001366263.1:c.240C>G, NM_001366267.1:c.291C>T, NM_001366267.1:c.291C>G, NM_001366265.1:c.447C>T, NM_001366265.1:c.447C>G, NR_158775.1:n.805C>T, NR_158775.1:n.805C>G, NM_001366256.1:c.240C>T, NM_001366256.1:c.240C>G, NR_158782.1:n.774C>T, NR_158782.1:n.774C>G, NR_158777.1:n.736C>T, NR_158777.1:n.736C>G, NR_158781.1:n.667C>T, NR_158781.1:n.667C>G, NR_158780.1:n.614C>T, NR_158780.1:n.614C>G, NM_001366270.1:c.189C>T, NM_001366270.1:c.189C>G, NM_001366271.1:c.193C>T, NM_001366271.1:c.193C>G, NM_001366257.1:c.240C>T, NM_001366257.1:c.240C>G, NM_001366278.1:c.411C>T, NM_001366278.1:c.411C>G, NR_158773.1:n.422C>T, NR_158773.1:n.422C>G, XM_047419291.1:c.303C>T, XM_047419291.1:c.303C>G, XM_047419295.1:c.250C>T, XM_047419295.1:c.250C>G, XR_007059335.1:n.928C>T, XR_007059335.1:n.928C>G, NP_848642.2:p.His137Gln, XP_016856625.1:p.His82Gln, NP_001317404.1:p.His101Gln, NP_001295067.1:p.His80Gln, NP_001295068.1:p.His80Gln, NP_001295069.1:p.His80Gln, NP_001295070.1:p.His80Gln, NP_001295064.1:p.His142Gln, NP_001295065.1:p.Pro132Ser, NP_001295065.1:p.Pro132Ala, NP_001295066.1:p.Pro125Ser, NP_001295066.1:p.Pro125Ala, NP_001353187.1:p.His80Gln, NP_001353184.1:p.His101Gln, NP_001353197.1:p.His92Gln, NP_001353188.1:p.His80Gln, NP_001353189.1:p.His80Gln, NP_001353193.1:p.His161Gln, NP_001353198.1:p.Pro84Ser, NP_001353198.1:p.Pro84Ala, NP_001353192.1:p.His80Gln, NP_001353196.1:p.His97Gln, NP_001353194.1:p.His149Gln, NP_001353185.1:p.His80Gln, NP_001353199.1:p.His63Gln, NP_001353200.1:p.Pro65Ser, NP_001353200.1:p.Pro65Ala, NP_001353186.1:p.His80Gln, XP_047275247.1:p.His101Gln, XP_047275251.1:p.Pro84Ser, XP_047275251.1:p.Pro84Ala

    2.

    rs1489906445 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:32650474 (GRCh38)
      1:33116075 (GRCh37)
      Canonical SPDI:
      NC_000001.11:32650473:G:A
      Gene:
      RBBP4 (Varview), ZBTB8OS (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000001.11:g.32650474G>A, NC_000001.10:g.33116075G>A, NM_178547.5:c.56C>T, NM_178547.4:c.92C>T, NM_178547.3:c.92C>T, NM_178547.2:c.92C>T, XM_017001136.3:c.92C>T, XM_017001136.2:c.92C>T, XM_017001136.1:c.92C>T, XM_011541327.3:c.92C>T, XM_011541327.2:c.92C>T, XM_011541327.1:c.92C>T, NM_001330475.2:c.-119C>T, NM_001330475.1:c.-119C>T, NM_001308138.2:c.-160C>T, NM_001308138.1:c.-160C>T, NM_001308139.2:c.-154C>T, NM_001308139.1:c.-154C>T, NM_001308140.2:c.-147C>T, NM_001308140.1:c.-147C>T, NM_001308141.2:c.-120C>T, NM_001308141.1:c.-120C>T, NM_001308135.2:c.92C>T, NM_001308135.1:c.92C>T, NM_001308136.2:c.92C>T, NM_001308136.1:c.92C>T, NM_001308137.2:c.92C>T, NM_001308137.1:c.92C>T, NR_158779.1:n.459C>T, NR_158778.1:n.459C>T, NR_158774.1:n.459C>T, NM_001366258.1:c.-220C>T, NM_001366255.1:c.-150C>T, NM_001366268.1:c.-154C>T, NM_001366259.1:c.-185C>T, NR_158772.1:n.459C>T, NM_001366260.1:c.-158C>T, NM_001366264.1:c.92C>T, NM_001366269.1:c.-119C>T, NM_001366263.1:c.-129C>T, NM_001366267.1:c.-71C>T, NM_001366265.1:c.92C>T, NR_158775.1:n.459C>T, NM_001366256.1:c.-91C>T, NR_158782.1:n.459C>T, NR_158777.1:n.459C>T, NM_001366266.1:c.92C>T, NR_158781.1:n.459C>T, NR_158780.1:n.459C>T, NR_158776.1:n.459C>T, NM_001366270.1:c.92C>T, NM_001366271.1:c.92C>T, NM_001366278.1:c.56C>T, XR_007059335.1:n.459C>T, XM_047419294.1:c.92C>T, NP_848642.2:p.Ala19Val, XP_016856625.1:p.Ala31Val, XP_011539629.1:p.Ala31Val, NP_001295064.1:p.Ala31Val, NP_001295065.1:p.Ala31Val, NP_001295066.1:p.Ala31Val, NP_001353193.1:p.Ala31Val, NP_001353194.1:p.Ala31Val, NP_001353195.1:p.Ala31Val, NP_001353199.1:p.Ala31Val, NP_001353200.1:p.Ala31Val, XP_047275250.1:p.Ala31Val

      3.

      rs1482095267 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:32634033 (GRCh38)
        1:33099634 (GRCh37)
        Canonical SPDI:
        NC_000001.11:32634032:C:T
        Gene:
        ZBTB8OS (Varview)
        Functional Consequence:
        synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.32634033C>T, NC_000001.10:g.33099634C>T, NM_178547.5:c.162G>A, NM_178547.4:c.198G>A, NM_178547.3:c.198G>A, NM_178547.2:c.198G>A, XM_011541327.3:c.198G>A, XM_011541327.2:c.198G>A, XM_011541327.1:c.198G>A, NM_001330475.2:c.54G>A, NM_001330475.1:c.54G>A, NM_001308138.2:c.-10G>A, NM_001308138.1:c.-10G>A, NM_001308139.2:c.-10G>A, NM_001308139.1:c.-10G>A, NM_001308140.2:c.-10G>A, NM_001308140.1:c.-10G>A, NM_001308141.2:c.-10G>A, NM_001308141.1:c.-10G>A, NM_001308135.2:c.177G>A, NM_001308135.1:c.177G>A, NM_001308136.2:c.198G>A, NM_001308136.1:c.198G>A, NM_001308137.2:c.177G>A, NM_001308137.1:c.177G>A, NR_158779.1:n.565G>A, NR_158778.1:n.631G>A, NR_158774.1:n.540G>A, NM_001366258.1:c.-10G>A, NM_001366255.1:c.54G>A, NM_001366268.1:c.-10G>A, NM_001366259.1:c.-10G>A, NR_158772.1:n.669G>A, NM_001366260.1:c.-10G>A, NM_001366264.1:c.198G>A, NM_001366269.1:c.54G>A, NM_001366263.1:c.-10G>A, NM_001366267.1:c.42G>A, NM_001366265.1:c.198G>A, NR_158775.1:n.609G>A, NM_001366256.1:c.-10G>A, NR_158782.1:n.578G>A, NR_158777.1:n.540G>A, NM_001366266.1:c.198G>A, NM_001366257.1:c.-10G>A, NM_001366278.1:c.162G>A, NR_158773.1:n.226G>A, XM_047419291.1:c.54G>A, XM_047419295.1:c.54G>A, XR_007059335.1:n.565G>A, XM_047419294.1:c.198G>A

        4.

        rs1471764970 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:32633955 (GRCh38)
          1:33099556 (GRCh37)
          Canonical SPDI:
          NC_000001.11:32633954:G:A
          Gene:
          ZBTB8OS (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000005/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000001.11:g.32633955G>A, NC_000001.10:g.33099556G>A, NM_178547.5:c.240C>T, NM_178547.4:c.276C>T, NM_178547.3:c.276C>T, NM_178547.2:c.276C>T, XM_011541327.3:c.276C>T, XM_011541327.2:c.276C>T, XM_011541327.1:c.276C>T, NM_001330475.2:c.132C>T, NM_001330475.1:c.132C>T, NM_001308138.2:c.69C>T, NM_001308138.1:c.69C>T, NM_001308139.2:c.69C>T, NM_001308139.1:c.69C>T, NM_001308140.2:c.69C>T, NM_001308140.1:c.69C>T, NM_001308141.2:c.69C>T, NM_001308141.1:c.69C>T, NM_001308135.2:c.255C>T, NM_001308135.1:c.255C>T, NM_001308136.2:c.276C>T, NM_001308136.1:c.276C>T, NM_001308137.2:c.255C>T, NM_001308137.1:c.255C>T, NR_158779.1:n.643C>T, NR_158778.1:n.709C>T, NR_158774.1:n.618C>T, NM_001366258.1:c.69C>T, NM_001366255.1:c.132C>T, NM_001366268.1:c.69C>T, NM_001366259.1:c.69C>T, NR_158772.1:n.747C>T, NM_001366260.1:c.69C>T, NM_001366264.1:c.276C>T, NM_001366269.1:c.132C>T, NM_001366263.1:c.69C>T, NM_001366267.1:c.120C>T, NM_001366265.1:c.276C>T, NR_158775.1:n.687C>T, NM_001366256.1:c.69C>T, NR_158782.1:n.656C>T, NR_158777.1:n.618C>T, NM_001366266.1:c.276C>T, NM_001366257.1:c.69C>T, NM_001366278.1:c.240C>T, NR_158773.1:n.304C>T, XM_047419291.1:c.132C>T, XM_047419295.1:c.132C>T, XR_007059335.1:n.643C>T, XM_047419294.1:c.276C>T

          5.

          rs1467309650 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:32621918 (GRCh38)
            1:33087519 (GRCh37)
            Canonical SPDI:
            NC_000001.11:32621917:C:T
            Gene:
            ZBTB8OS (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.32621918C>T, NC_000001.10:g.33087519C>T, NM_178547.5:c.448G>A, NM_178547.4:c.484G>A, NM_178547.3:c.484G>A, NM_178547.2:c.484G>A, XM_017001136.3:c.283G>A, XM_017001136.2:c.283G>A, XM_017001136.1:c.283G>A, NM_001330475.2:c.340G>A, NM_001330475.1:c.340G>A, NM_001308138.2:c.277G>A, NM_001308138.1:c.277G>A, NM_001308139.2:c.277G>A, NM_001308139.1:c.277G>A, NM_001308140.2:c.277G>A, NM_001308140.1:c.277G>A, NM_001308141.2:c.277G>A, NM_001308141.1:c.277G>A, NM_001308135.2:c.463G>A, NM_001308135.1:c.463G>A, NM_001308136.2:c.431G>A, NM_001308136.1:c.431G>A, NM_001308137.2:c.410G>A, NM_001308137.1:c.410G>A, NR_158779.1:n.1054G>A, NR_158778.1:n.978G>A, NR_158774.1:n.964G>A, NM_001366258.1:c.277G>A, NM_001366255.1:c.340G>A, NM_001366268.1:c.313G>A, NM_001366259.1:c.277G>A, NR_158772.1:n.902G>A, NM_001366260.1:c.277G>A, NM_001366264.1:c.520G>A, NM_001366269.1:c.287G>A, NM_001366263.1:c.277G>A, NM_001366267.1:c.328G>A, NM_001366265.1:c.*9G>A, NR_158775.1:n.842G>A, NM_001366256.1:c.277G>A, NR_158782.1:n.811G>A, NR_158777.1:n.773G>A, NM_001366266.1:c.394G>A, NR_158781.1:n.704G>A, NR_158780.1:n.651G>A, NR_158776.1:n.614G>A, NM_001366270.1:c.226G>A, NM_001366271.1:c.223G>A, NM_001366257.1:c.277G>A, NM_001366278.1:c.448G>A, NR_158773.1:n.459G>A, XM_047419291.1:c.340G>A, XM_047419295.1:c.287G>A, NP_848642.2:p.Ala150Thr, XP_016856625.1:p.Ala95Thr, NP_001317404.1:p.Ala114Thr, NP_001295067.1:p.Ala93Thr, NP_001295068.1:p.Ala93Thr, NP_001295069.1:p.Ala93Thr, NP_001295070.1:p.Ala93Thr, NP_001295064.1:p.Ala155Thr, NP_001295065.1:p.Ser144Asn, NP_001295066.1:p.Ser137Asn, NP_001353187.1:p.Ala93Thr, NP_001353184.1:p.Ala114Thr, NP_001353197.1:p.Ala105Thr, NP_001353188.1:p.Ala93Thr, NP_001353189.1:p.Ala93Thr, NP_001353193.1:p.Ala174Thr, NP_001353198.1:p.Ser96Asn, NP_001353192.1:p.Ala93Thr, NP_001353196.1:p.Ala110Thr, NP_001353185.1:p.Ala93Thr, NP_001353195.1:p.Ala132Thr, NP_001353199.1:p.Ala76Thr, NP_001353200.1:p.Ala75Thr, NP_001353186.1:p.Ala93Thr, XP_047275247.1:p.Ala114Thr, XP_047275251.1:p.Ser96Asn

            6.

            rs1441594169 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              1:32633653 (GRCh38)
              1:33099254 (GRCh37)
              Canonical SPDI:
              NC_000001.11:32633652:T:G
              Gene:
              ZBTB8OS (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.000014/2 (GnomAD)
              HGVS:
              NC_000001.11:g.32633653T>G, NC_000001.10:g.33099254T>G, NM_178547.5:c.319A>C, NM_178547.4:c.355A>C, NM_178547.3:c.355A>C, NM_178547.2:c.355A>C, XM_011541327.3:c.355A>C, XM_011541327.2:c.355A>C, XM_011541327.1:c.355A>C, NM_001330475.2:c.211A>C, NM_001330475.1:c.211A>C, NM_001308138.2:c.148A>C, NM_001308138.1:c.148A>C, NM_001308139.2:c.148A>C, NM_001308139.1:c.148A>C, NM_001308140.2:c.148A>C, NM_001308140.1:c.148A>C, NM_001308141.2:c.148A>C, NM_001308141.1:c.148A>C, NM_001308135.2:c.334A>C, NM_001308135.1:c.334A>C, NM_001308136.2:c.355A>C, NM_001308136.1:c.355A>C, NM_001308137.2:c.334A>C, NM_001308137.1:c.334A>C, NR_158779.1:n.722A>C, NR_158778.1:n.788A>C, NR_158774.1:n.697A>C, NM_001366258.1:c.148A>C, NM_001366255.1:c.211A>C, NM_001366268.1:c.148A>C, NM_001366259.1:c.148A>C, NR_158772.1:n.826A>C, NM_001366260.1:c.148A>C, NM_001366264.1:c.355A>C, NM_001366269.1:c.211A>C, NM_001366263.1:c.148A>C, NM_001366267.1:c.199A>C, NM_001366265.1:c.355A>C, NR_158775.1:n.766A>C, NM_001366256.1:c.148A>C, NR_158782.1:n.735A>C, NR_158777.1:n.697A>C, NM_001366266.1:c.355A>C, NR_158781.1:n.575A>C, NR_158780.1:n.575A>C, NR_158776.1:n.575A>C, NM_001366257.1:c.148A>C, NM_001366278.1:c.319A>C, NR_158773.1:n.383A>C, XM_047419291.1:c.211A>C, XM_047419295.1:c.211A>C, XR_007059335.1:n.722A>C, XM_047419294.1:c.355A>C, NP_848642.2:p.Ile107Leu, XP_011539629.1:p.Ile119Leu, NP_001317404.1:p.Ile71Leu, NP_001295067.1:p.Ile50Leu, NP_001295068.1:p.Ile50Leu, NP_001295069.1:p.Ile50Leu, NP_001295070.1:p.Ile50Leu, NP_001295064.1:p.Ile112Leu, NP_001295065.1:p.Ile119Leu, NP_001295066.1:p.Ile112Leu, NP_001353187.1:p.Ile50Leu, NP_001353184.1:p.Ile71Leu, NP_001353197.1:p.Ile50Leu, NP_001353188.1:p.Ile50Leu, NP_001353189.1:p.Ile50Leu, NP_001353193.1:p.Ile119Leu, NP_001353198.1:p.Ile71Leu, NP_001353192.1:p.Ile50Leu, NP_001353196.1:p.Ile67Leu, NP_001353194.1:p.Ile119Leu, NP_001353185.1:p.Ile50Leu, NP_001353195.1:p.Ile119Leu, NP_001353186.1:p.Ile50Leu, XP_047275247.1:p.Ile71Leu, XP_047275251.1:p.Ile71Leu, XP_047275250.1:p.Ile119Leu

              7.

              rs1438102310 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:32650493 (GRCh38)
                1:33116094 (GRCh37)
                Canonical SPDI:
                NC_000001.11:32650492:A:G
                Gene:
                RBBP4 (Varview), ZBTB8OS (Varview)
                Functional Consequence:
                5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.32650493A>G, NC_000001.10:g.33116094A>G, NM_178547.5:c.37T>C, NM_178547.4:c.73T>C, NM_178547.3:c.73T>C, NM_178547.2:c.73T>C, XM_017001136.3:c.73T>C, XM_017001136.2:c.73T>C, XM_017001136.1:c.73T>C, XM_011541327.3:c.73T>C, XM_011541327.2:c.73T>C, XM_011541327.1:c.73T>C, NM_001330475.2:c.-138T>C, NM_001330475.1:c.-138T>C, NM_001308138.2:c.-179T>C, NM_001308138.1:c.-179T>C, NM_001308139.2:c.-173T>C, NM_001308139.1:c.-173T>C, NM_001308140.2:c.-166T>C, NM_001308140.1:c.-166T>C, NM_001308141.2:c.-139T>C, NM_001308141.1:c.-139T>C, NM_001308135.2:c.73T>C, NM_001308135.1:c.73T>C, NM_001308136.2:c.73T>C, NM_001308136.1:c.73T>C, NM_001308137.2:c.73T>C, NM_001308137.1:c.73T>C, NR_158779.1:n.440T>C, NR_158778.1:n.440T>C, NR_158774.1:n.440T>C, NM_001366258.1:c.-239T>C, NM_001366255.1:c.-169T>C, NM_001366268.1:c.-173T>C, NM_001366259.1:c.-204T>C, NR_158772.1:n.440T>C, NM_001366260.1:c.-177T>C, NM_001366264.1:c.73T>C, NM_001366269.1:c.-138T>C, NM_001366263.1:c.-148T>C, NM_001366267.1:c.-90T>C, NM_001366265.1:c.73T>C, NR_158775.1:n.440T>C, NM_001366256.1:c.-110T>C, NR_158782.1:n.440T>C, NR_158777.1:n.440T>C, NM_001366266.1:c.73T>C, NR_158781.1:n.440T>C, NR_158780.1:n.440T>C, NR_158776.1:n.440T>C, NM_001366270.1:c.73T>C, NM_001366271.1:c.73T>C, NM_001366278.1:c.37T>C, XR_007059335.1:n.440T>C, XM_047419294.1:c.73T>C

                8.

                rs1433443064 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:32634025 (GRCh38)
                  1:33099626 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:32634024:G:A
                  Gene:
                  ZBTB8OS (Varview)
                  Functional Consequence:
                  missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.32634025G>A, NC_000001.10:g.33099626G>A, NM_178547.5:c.170C>T, NM_178547.4:c.206C>T, NM_178547.3:c.206C>T, NM_178547.2:c.206C>T, XM_011541327.3:c.206C>T, XM_011541327.2:c.206C>T, XM_011541327.1:c.206C>T, NM_001330475.2:c.62C>T, NM_001330475.1:c.62C>T, NM_001308138.2:c.-2C>T, NM_001308138.1:c.-2C>T, NM_001308139.2:c.-2C>T, NM_001308139.1:c.-2C>T, NM_001308140.2:c.-2C>T, NM_001308140.1:c.-2C>T, NM_001308141.2:c.-2C>T, NM_001308141.1:c.-2C>T, NM_001308135.2:c.185C>T, NM_001308135.1:c.185C>T, NM_001308136.2:c.206C>T, NM_001308136.1:c.206C>T, NM_001308137.2:c.185C>T, NM_001308137.1:c.185C>T, NR_158779.1:n.573C>T, NR_158778.1:n.639C>T, NR_158774.1:n.548C>T, NM_001366258.1:c.-2C>T, NM_001366255.1:c.62C>T, NM_001366268.1:c.-2C>T, NM_001366259.1:c.-2C>T, NR_158772.1:n.677C>T, NM_001366260.1:c.-2C>T, NM_001366264.1:c.206C>T, NM_001366269.1:c.62C>T, NM_001366263.1:c.-2C>T, NM_001366267.1:c.50C>T, NM_001366265.1:c.206C>T, NR_158775.1:n.617C>T, NM_001366256.1:c.-2C>T, NR_158782.1:n.586C>T, NR_158777.1:n.548C>T, NM_001366266.1:c.206C>T, NM_001366257.1:c.-2C>T, NM_001366278.1:c.170C>T, NR_158773.1:n.234C>T, XM_047419291.1:c.62C>T, XM_047419295.1:c.62C>T, XR_007059335.1:n.573C>T, XM_047419294.1:c.206C>T, NP_848642.2:p.Ala57Val, XP_011539629.1:p.Ala69Val, NP_001317404.1:p.Ala21Val, NP_001295064.1:p.Ala62Val, NP_001295065.1:p.Ala69Val, NP_001295066.1:p.Ala62Val, NP_001353184.1:p.Ala21Val, NP_001353193.1:p.Ala69Val, NP_001353198.1:p.Ala21Val, NP_001353196.1:p.Ala17Val, NP_001353194.1:p.Ala69Val, NP_001353195.1:p.Ala69Val, XP_047275247.1:p.Ala21Val, XP_047275251.1:p.Ala21Val, XP_047275250.1:p.Ala69Val

                  9.

                  rs1431462027 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:32633954 (GRCh38)
                    1:33099555 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:32633953:G:C
                    Gene:
                    ZBTB8OS (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                    HGVS:
                    NC_000001.11:g.32633954G>C, NC_000001.10:g.33099555G>C, NM_178547.5:c.241C>G, NM_178547.4:c.277C>G, NM_178547.3:c.277C>G, NM_178547.2:c.277C>G, XM_011541327.3:c.277C>G, XM_011541327.2:c.277C>G, XM_011541327.1:c.277C>G, NM_001330475.2:c.133C>G, NM_001330475.1:c.133C>G, NM_001308138.2:c.70C>G, NM_001308138.1:c.70C>G, NM_001308139.2:c.70C>G, NM_001308139.1:c.70C>G, NM_001308140.2:c.70C>G, NM_001308140.1:c.70C>G, NM_001308141.2:c.70C>G, NM_001308141.1:c.70C>G, NM_001308135.2:c.256C>G, NM_001308135.1:c.256C>G, NM_001308136.2:c.277C>G, NM_001308136.1:c.277C>G, NM_001308137.2:c.256C>G, NM_001308137.1:c.256C>G, NR_158779.1:n.644C>G, NR_158778.1:n.710C>G, NR_158774.1:n.619C>G, NM_001366258.1:c.70C>G, NM_001366255.1:c.133C>G, NM_001366268.1:c.70C>G, NM_001366259.1:c.70C>G, NR_158772.1:n.748C>G, NM_001366260.1:c.70C>G, NM_001366264.1:c.277C>G, NM_001366269.1:c.133C>G, NM_001366263.1:c.70C>G, NM_001366267.1:c.121C>G, NM_001366265.1:c.277C>G, NR_158775.1:n.688C>G, NM_001366256.1:c.70C>G, NR_158782.1:n.657C>G, NR_158777.1:n.619C>G, NM_001366266.1:c.277C>G, NM_001366257.1:c.70C>G, NM_001366278.1:c.241C>G, NR_158773.1:n.305C>G, XM_047419291.1:c.133C>G, XM_047419295.1:c.133C>G, XR_007059335.1:n.644C>G, XM_047419294.1:c.277C>G, NP_848642.2:p.Gln81Glu, XP_011539629.1:p.Gln93Glu, NP_001317404.1:p.Gln45Glu, NP_001295067.1:p.Gln24Glu, NP_001295068.1:p.Gln24Glu, NP_001295069.1:p.Gln24Glu, NP_001295070.1:p.Gln24Glu, NP_001295064.1:p.Gln86Glu, NP_001295065.1:p.Gln93Glu, NP_001295066.1:p.Gln86Glu, NP_001353187.1:p.Gln24Glu, NP_001353184.1:p.Gln45Glu, NP_001353197.1:p.Gln24Glu, NP_001353188.1:p.Gln24Glu, NP_001353189.1:p.Gln24Glu, NP_001353193.1:p.Gln93Glu, NP_001353198.1:p.Gln45Glu, NP_001353192.1:p.Gln24Glu, NP_001353196.1:p.Gln41Glu, NP_001353194.1:p.Gln93Glu, NP_001353185.1:p.Gln24Glu, NP_001353195.1:p.Gln93Glu, NP_001353186.1:p.Gln24Glu, XP_047275247.1:p.Gln45Glu, XP_047275251.1:p.Gln45Glu, XP_047275250.1:p.Gln93Glu

                    10.

                    rs1429688134 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:32633721 (GRCh38)
                      1:33099322 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:32633720:T:C
                      Gene:
                      ZBTB8OS (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.32633721T>C, NC_000001.10:g.33099322T>C, NM_178547.5:c.251A>G, NM_178547.4:c.287A>G, NM_178547.3:c.287A>G, NM_178547.2:c.287A>G, XM_011541327.3:c.287A>G, XM_011541327.2:c.287A>G, XM_011541327.1:c.287A>G, NM_001330475.2:c.143A>G, NM_001330475.1:c.143A>G, NM_001308138.2:c.80A>G, NM_001308138.1:c.80A>G, NM_001308139.2:c.80A>G, NM_001308139.1:c.80A>G, NM_001308140.2:c.80A>G, NM_001308140.1:c.80A>G, NM_001308141.2:c.80A>G, NM_001308141.1:c.80A>G, NM_001308135.2:c.266A>G, NM_001308135.1:c.266A>G, NM_001308136.2:c.287A>G, NM_001308136.1:c.287A>G, NM_001308137.2:c.266A>G, NM_001308137.1:c.266A>G, NR_158779.1:n.654A>G, NR_158778.1:n.720A>G, NR_158774.1:n.629A>G, NM_001366258.1:c.80A>G, NM_001366255.1:c.143A>G, NM_001366268.1:c.80A>G, NM_001366259.1:c.80A>G, NR_158772.1:n.758A>G, NM_001366260.1:c.80A>G, NM_001366264.1:c.287A>G, NM_001366269.1:c.143A>G, NM_001366263.1:c.80A>G, NM_001366267.1:c.131A>G, NM_001366265.1:c.287A>G, NR_158775.1:n.698A>G, NM_001366256.1:c.80A>G, NR_158782.1:n.667A>G, NR_158777.1:n.629A>G, NM_001366266.1:c.287A>G, NR_158781.1:n.507A>G, NR_158780.1:n.507A>G, NR_158776.1:n.507A>G, NM_001366257.1:c.80A>G, NM_001366278.1:c.251A>G, NR_158773.1:n.315A>G, XM_047419291.1:c.143A>G, XM_047419295.1:c.143A>G, XR_007059335.1:n.654A>G, XM_047419294.1:c.287A>G, NP_848642.2:p.Asp84Gly, XP_011539629.1:p.Asp96Gly, NP_001317404.1:p.Asp48Gly, NP_001295067.1:p.Asp27Gly, NP_001295068.1:p.Asp27Gly, NP_001295069.1:p.Asp27Gly, NP_001295070.1:p.Asp27Gly, NP_001295064.1:p.Asp89Gly, NP_001295065.1:p.Asp96Gly, NP_001295066.1:p.Asp89Gly, NP_001353187.1:p.Asp27Gly, NP_001353184.1:p.Asp48Gly, NP_001353197.1:p.Asp27Gly, NP_001353188.1:p.Asp27Gly, NP_001353189.1:p.Asp27Gly, NP_001353193.1:p.Asp96Gly, NP_001353198.1:p.Asp48Gly, NP_001353192.1:p.Asp27Gly, NP_001353196.1:p.Asp44Gly, NP_001353194.1:p.Asp96Gly, NP_001353185.1:p.Asp27Gly, NP_001353195.1:p.Asp96Gly, NP_001353186.1:p.Asp27Gly, XP_047275247.1:p.Asp48Gly, XP_047275251.1:p.Asp48Gly, XP_047275250.1:p.Asp96Gly

                      11.

                      rs1426651739 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:32621914 (GRCh38)
                        1:33087515 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:32621913:A:G
                        Gene:
                        ZBTB8OS (Varview)
                        Functional Consequence:
                        missense_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000001.11:g.32621914A>G, NC_000001.10:g.33087515A>G, NM_178547.5:c.452T>C, NM_178547.4:c.488T>C, NM_178547.3:c.488T>C, NM_178547.2:c.488T>C, XM_017001136.3:c.287T>C, XM_017001136.2:c.287T>C, XM_017001136.1:c.287T>C, NM_001330475.2:c.344T>C, NM_001330475.1:c.344T>C, NM_001308138.2:c.281T>C, NM_001308138.1:c.281T>C, NM_001308139.2:c.281T>C, NM_001308139.1:c.281T>C, NM_001308140.2:c.281T>C, NM_001308140.1:c.281T>C, NM_001308141.2:c.281T>C, NM_001308141.1:c.281T>C, NM_001308135.2:c.467T>C, NM_001308135.1:c.467T>C, NM_001308136.2:c.435T>C, NM_001308136.1:c.435T>C, NM_001308137.2:c.414T>C, NM_001308137.1:c.414T>C, NR_158779.1:n.1058T>C, NR_158778.1:n.982T>C, NR_158774.1:n.968T>C, NM_001366258.1:c.281T>C, NM_001366255.1:c.344T>C, NM_001366268.1:c.317T>C, NM_001366259.1:c.281T>C, NR_158772.1:n.906T>C, NM_001366260.1:c.281T>C, NM_001366264.1:c.524T>C, NM_001366269.1:c.291T>C, NM_001366263.1:c.281T>C, NM_001366267.1:c.332T>C, NM_001366265.1:c.*13T>C, NR_158775.1:n.846T>C, NM_001366256.1:c.281T>C, NR_158782.1:n.815T>C, NR_158777.1:n.777T>C, NM_001366266.1:c.398T>C, NR_158781.1:n.708T>C, NR_158780.1:n.655T>C, NR_158776.1:n.618T>C, NM_001366270.1:c.230T>C, NM_001366271.1:c.227T>C, NM_001366257.1:c.281T>C, NM_001366278.1:c.452T>C, NR_158773.1:n.463T>C, XM_047419291.1:c.344T>C, XM_047419295.1:c.291T>C, NP_848642.2:p.Met151Thr, XP_016856625.1:p.Met96Thr, NP_001317404.1:p.Met115Thr, NP_001295067.1:p.Met94Thr, NP_001295068.1:p.Met94Thr, NP_001295069.1:p.Met94Thr, NP_001295070.1:p.Met94Thr, NP_001295064.1:p.Met156Thr, NP_001353187.1:p.Met94Thr, NP_001353184.1:p.Met115Thr, NP_001353197.1:p.Met106Thr, NP_001353188.1:p.Met94Thr, NP_001353189.1:p.Met94Thr, NP_001353193.1:p.Met175Thr, NP_001353192.1:p.Met94Thr, NP_001353196.1:p.Met111Thr, NP_001353185.1:p.Met94Thr, NP_001353195.1:p.Met133Thr, NP_001353199.1:p.Met77Thr, NP_001353200.1:p.Met76Thr, NP_001353186.1:p.Met94Thr, XP_047275247.1:p.Met115Thr

                        12.

                        rs1423284838 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:32633971 (GRCh38)
                          1:33099572 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:32633970:G:A
                          Gene:
                          ZBTB8OS (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000001.11:g.32633971G>A, NC_000001.10:g.33099572G>A, NM_178547.5:c.224C>T, NM_178547.4:c.260C>T, NM_178547.3:c.260C>T, NM_178547.2:c.260C>T, XM_011541327.3:c.260C>T, XM_011541327.2:c.260C>T, XM_011541327.1:c.260C>T, NM_001330475.2:c.116C>T, NM_001330475.1:c.116C>T, NM_001308138.2:c.53C>T, NM_001308138.1:c.53C>T, NM_001308139.2:c.53C>T, NM_001308139.1:c.53C>T, NM_001308140.2:c.53C>T, NM_001308140.1:c.53C>T, NM_001308141.2:c.53C>T, NM_001308141.1:c.53C>T, NM_001308135.2:c.239C>T, NM_001308135.1:c.239C>T, NM_001308136.2:c.260C>T, NM_001308136.1:c.260C>T, NM_001308137.2:c.239C>T, NM_001308137.1:c.239C>T, NR_158779.1:n.627C>T, NR_158778.1:n.693C>T, NR_158774.1:n.602C>T, NM_001366258.1:c.53C>T, NM_001366255.1:c.116C>T, NM_001366268.1:c.53C>T, NM_001366259.1:c.53C>T, NR_158772.1:n.731C>T, NM_001366260.1:c.53C>T, NM_001366264.1:c.260C>T, NM_001366269.1:c.116C>T, NM_001366263.1:c.53C>T, NM_001366267.1:c.104C>T, NM_001366265.1:c.260C>T, NR_158775.1:n.671C>T, NM_001366256.1:c.53C>T, NR_158782.1:n.640C>T, NR_158777.1:n.602C>T, NM_001366266.1:c.260C>T, NM_001366257.1:c.53C>T, NM_001366278.1:c.224C>T, NR_158773.1:n.288C>T, XM_047419291.1:c.116C>T, XM_047419295.1:c.116C>T, XR_007059335.1:n.627C>T, XM_047419294.1:c.260C>T, NP_848642.2:p.Thr75Ile, XP_011539629.1:p.Thr87Ile, NP_001317404.1:p.Thr39Ile, NP_001295067.1:p.Thr18Ile, NP_001295068.1:p.Thr18Ile, NP_001295069.1:p.Thr18Ile, NP_001295070.1:p.Thr18Ile, NP_001295064.1:p.Thr80Ile, NP_001295065.1:p.Thr87Ile, NP_001295066.1:p.Thr80Ile, NP_001353187.1:p.Thr18Ile, NP_001353184.1:p.Thr39Ile, NP_001353197.1:p.Thr18Ile, NP_001353188.1:p.Thr18Ile, NP_001353189.1:p.Thr18Ile, NP_001353193.1:p.Thr87Ile, NP_001353198.1:p.Thr39Ile, NP_001353192.1:p.Thr18Ile, NP_001353196.1:p.Thr35Ile, NP_001353194.1:p.Thr87Ile, NP_001353185.1:p.Thr18Ile, NP_001353195.1:p.Thr87Ile, NP_001353186.1:p.Thr18Ile, XP_047275247.1:p.Thr39Ile, XP_047275251.1:p.Thr39Ile, XP_047275250.1:p.Thr87Ile

                          13.

                          rs1408898696 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:32650517 (GRCh38)
                            1:33116118 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:32650516:C:T
                            Gene:
                            RBBP4 (Varview), ZBTB8OS (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.32650517C>T, NC_000001.10:g.33116118C>T, NM_178547.5:c.13G>A, NM_178547.4:c.49G>A, NM_178547.3:c.49G>A, NM_178547.2:c.49G>A, XM_017001136.3:c.49G>A, XM_017001136.2:c.49G>A, XM_017001136.1:c.49G>A, XM_011541327.3:c.49G>A, XM_011541327.2:c.49G>A, XM_011541327.1:c.49G>A, NM_001330475.2:c.-162G>A, NM_001330475.1:c.-162G>A, NM_001308138.2:c.-203G>A, NM_001308138.1:c.-203G>A, NM_001308139.2:c.-197G>A, NM_001308139.1:c.-197G>A, NM_001308140.2:c.-190G>A, NM_001308140.1:c.-190G>A, NM_001308141.2:c.-163G>A, NM_001308141.1:c.-163G>A, NM_001308135.2:c.49G>A, NM_001308135.1:c.49G>A, NM_001308136.2:c.49G>A, NM_001308136.1:c.49G>A, NM_001308137.2:c.49G>A, NM_001308137.1:c.49G>A, NR_158779.1:n.416G>A, NR_158778.1:n.416G>A, NR_158774.1:n.416G>A, NM_001366258.1:c.-263G>A, NM_001366255.1:c.-193G>A, NM_001366268.1:c.-197G>A, NM_001366259.1:c.-228G>A, NR_158772.1:n.416G>A, NM_001366260.1:c.-201G>A, NM_001366264.1:c.49G>A, NM_001366269.1:c.-162G>A, NM_001366263.1:c.-172G>A, NM_001366267.1:c.-114G>A, NM_001366265.1:c.49G>A, NR_158775.1:n.416G>A, NM_001366256.1:c.-134G>A, NR_158782.1:n.416G>A, NR_158777.1:n.416G>A, NM_001366266.1:c.49G>A, NR_158781.1:n.416G>A, NR_158780.1:n.416G>A, NR_158776.1:n.416G>A, NM_001366270.1:c.49G>A, NM_001366271.1:c.49G>A, NM_001366278.1:c.13G>A, XR_007059335.1:n.416G>A, XM_047419294.1:c.49G>A, NP_848642.2:p.Glu5Lys, XP_016856625.1:p.Glu17Lys, XP_011539629.1:p.Glu17Lys, NP_001295064.1:p.Glu17Lys, NP_001295065.1:p.Glu17Lys, NP_001295066.1:p.Glu17Lys, NP_001353193.1:p.Glu17Lys, NP_001353194.1:p.Glu17Lys, NP_001353195.1:p.Glu17Lys, NP_001353199.1:p.Glu17Lys, NP_001353200.1:p.Glu17Lys, XP_047275250.1:p.Glu17Lys

                            14.

                            rs1408883544 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:32634000 (GRCh38)
                              1:33099601 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:32633999:T:C
                              Gene:
                              ZBTB8OS (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000047/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.32634000T>C, NC_000001.10:g.33099601T>C, NM_178547.5:c.195A>G, NM_178547.4:c.231A>G, NM_178547.3:c.231A>G, NM_178547.2:c.231A>G, XM_011541327.3:c.231A>G, XM_011541327.2:c.231A>G, XM_011541327.1:c.231A>G, NM_001330475.2:c.87A>G, NM_001330475.1:c.87A>G, NM_001308138.2:c.24A>G, NM_001308138.1:c.24A>G, NM_001308139.2:c.24A>G, NM_001308139.1:c.24A>G, NM_001308140.2:c.24A>G, NM_001308140.1:c.24A>G, NM_001308141.2:c.24A>G, NM_001308141.1:c.24A>G, NM_001308135.2:c.210A>G, NM_001308135.1:c.210A>G, NM_001308136.2:c.231A>G, NM_001308136.1:c.231A>G, NM_001308137.2:c.210A>G, NM_001308137.1:c.210A>G, NR_158779.1:n.598A>G, NR_158778.1:n.664A>G, NR_158774.1:n.573A>G, NM_001366258.1:c.24A>G, NM_001366255.1:c.87A>G, NM_001366268.1:c.24A>G, NM_001366259.1:c.24A>G, NR_158772.1:n.702A>G, NM_001366260.1:c.24A>G, NM_001366264.1:c.231A>G, NM_001366269.1:c.87A>G, NM_001366263.1:c.24A>G, NM_001366267.1:c.75A>G, NM_001366265.1:c.231A>G, NR_158775.1:n.642A>G, NM_001366256.1:c.24A>G, NR_158782.1:n.611A>G, NR_158777.1:n.573A>G, NM_001366266.1:c.231A>G, NM_001366257.1:c.24A>G, NM_001366278.1:c.195A>G, NR_158773.1:n.259A>G, XM_047419291.1:c.87A>G, XM_047419295.1:c.87A>G, XR_007059335.1:n.598A>G, XM_047419294.1:c.231A>G

                              15.

                              rs1408842836 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->T [Show Flanks]
                                Chromosome:
                                1:32633995 (GRCh38)
                                1:33099597 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:32633995:T:TT
                                Gene:
                                ZBTB8OS (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.32633996dup, NC_000001.10:g.33099597dup, NM_178547.5:c.199dup, NM_178547.4:c.235dup, NM_178547.3:c.235dup, NM_178547.2:c.235dup, XM_011541327.3:c.235dup, XM_011541327.2:c.235dup, XM_011541327.1:c.235dup, NM_001330475.2:c.91dup, NM_001330475.1:c.91dup, NM_001308138.2:c.28dup, NM_001308138.1:c.28dup, NM_001308139.2:c.28dup, NM_001308139.1:c.28dup, NM_001308140.2:c.28dup, NM_001308140.1:c.28dup, NM_001308141.2:c.28dup, NM_001308141.1:c.28dup, NM_001308135.2:c.214dup, NM_001308135.1:c.214dup, NM_001308136.2:c.235dup, NM_001308136.1:c.235dup, NM_001308137.2:c.214dup, NM_001308137.1:c.214dup, NR_158779.1:n.602dup, NR_158778.1:n.668dup, NR_158774.1:n.577dup, NM_001366258.1:c.28dup, NM_001366255.1:c.91dup, NM_001366268.1:c.28dup, NM_001366259.1:c.28dup, NR_158772.1:n.706dup, NM_001366260.1:c.28dup, NM_001366264.1:c.235dup, NM_001366269.1:c.91dup, NM_001366263.1:c.28dup, NM_001366267.1:c.79dup, NM_001366265.1:c.235dup, NR_158775.1:n.646dup, NM_001366256.1:c.28dup, NR_158782.1:n.615dup, NR_158777.1:n.577dup, NM_001366266.1:c.235dup, NM_001366257.1:c.28dup, NM_001366278.1:c.199dup, NR_158773.1:n.263dup, XM_047419291.1:c.91dup, XM_047419295.1:c.91dup, XR_007059335.1:n.602dup, XM_047419294.1:c.235dup, NP_848642.2:p.Thr67fs, XP_011539629.1:p.Thr79fs, NP_001317404.1:p.Thr31fs, NP_001295067.1:p.Thr10fs, NP_001295068.1:p.Thr10fs, NP_001295069.1:p.Thr10fs, NP_001295070.1:p.Thr10fs, NP_001295064.1:p.Thr72fs, NP_001295065.1:p.Thr79fs, NP_001295066.1:p.Thr72fs, NP_001353187.1:p.Thr10fs, NP_001353184.1:p.Thr31fs, NP_001353197.1:p.Thr10fs, NP_001353188.1:p.Thr10fs, NP_001353189.1:p.Thr10fs, NP_001353193.1:p.Thr79fs, NP_001353198.1:p.Thr31fs, NP_001353192.1:p.Thr10fs, NP_001353196.1:p.Thr27fs, NP_001353194.1:p.Thr79fs, NP_001353185.1:p.Thr10fs, NP_001353195.1:p.Thr79fs, NP_001353186.1:p.Thr10fs, XP_047275247.1:p.Thr31fs, XP_047275251.1:p.Thr31fs, XP_047275250.1:p.Thr79fs

                                16.

                                rs1404690219 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:32621904 (GRCh38)
                                  1:33087505 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:32621903:A:G
                                  Gene:
                                  ZBTB8OS (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,stop_lost,terminator_codon_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.32621904A>G, NC_000001.10:g.33087505A>G, NM_178547.5:c.462T>C, NM_178547.4:c.498T>C, NM_178547.3:c.498T>C, NM_178547.2:c.498T>C, XM_017001136.3:c.297T>C, XM_017001136.2:c.297T>C, XM_017001136.1:c.297T>C, NM_001330475.2:c.354T>C, NM_001330475.1:c.354T>C, NM_001308138.2:c.291T>C, NM_001308138.1:c.291T>C, NM_001308139.2:c.291T>C, NM_001308139.1:c.291T>C, NM_001308140.2:c.291T>C, NM_001308140.1:c.291T>C, NM_001308141.2:c.291T>C, NM_001308141.1:c.291T>C, NM_001308135.2:c.477T>C, NM_001308135.1:c.477T>C, NM_001308136.2:c.445T>C, NM_001308136.1:c.445T>C, NM_001308137.2:c.424T>C, NM_001308137.1:c.424T>C, NR_158779.1:n.1068T>C, NR_158778.1:n.992T>C, NR_158774.1:n.978T>C, NM_001366258.1:c.291T>C, NM_001366255.1:c.354T>C, NM_001366268.1:c.327T>C, NM_001366259.1:c.291T>C, NR_158772.1:n.916T>C, NM_001366260.1:c.291T>C, NM_001366264.1:c.534T>C, NM_001366269.1:c.301T>C, NM_001366263.1:c.291T>C, NM_001366267.1:c.342T>C, NM_001366265.1:c.*23T>C, NR_158775.1:n.856T>C, NM_001366256.1:c.291T>C, NR_158782.1:n.825T>C, NR_158777.1:n.787T>C, NM_001366266.1:c.408T>C, NR_158781.1:n.718T>C, NR_158780.1:n.665T>C, NR_158776.1:n.628T>C, NM_001366270.1:c.240T>C, NM_001366271.1:c.237T>C, NM_001366257.1:c.291T>C, NM_001366278.1:c.462T>C, NR_158773.1:n.473T>C, XM_047419291.1:c.354T>C, XM_047419295.1:c.301T>C, NP_001295065.1:p.Ter149Gln, NP_001295066.1:p.Ter142Gln, NP_001353198.1:p.Ter101Gln, XP_047275251.1:p.Ter101Gln

                                  17.

                                  rs1403003804 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:32650511 (GRCh38)
                                    1:33116112 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:32650510:C:T
                                    Gene:
                                    RBBP4 (Varview), ZBTB8OS (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.32650511C>T, NC_000001.10:g.33116112C>T, NM_178547.5:c.19G>A, NM_178547.4:c.55G>A, NM_178547.3:c.55G>A, NM_178547.2:c.55G>A, XM_017001136.3:c.55G>A, XM_017001136.2:c.55G>A, XM_017001136.1:c.55G>A, XM_011541327.3:c.55G>A, XM_011541327.2:c.55G>A, XM_011541327.1:c.55G>A, NM_001330475.2:c.-156G>A, NM_001330475.1:c.-156G>A, NM_001308138.2:c.-197G>A, NM_001308138.1:c.-197G>A, NM_001308139.2:c.-191G>A, NM_001308139.1:c.-191G>A, NM_001308140.2:c.-184G>A, NM_001308140.1:c.-184G>A, NM_001308141.2:c.-157G>A, NM_001308141.1:c.-157G>A, NM_001308135.2:c.55G>A, NM_001308135.1:c.55G>A, NM_001308136.2:c.55G>A, NM_001308136.1:c.55G>A, NM_001308137.2:c.55G>A, NM_001308137.1:c.55G>A, NR_158779.1:n.422G>A, NR_158778.1:n.422G>A, NR_158774.1:n.422G>A, NM_001366258.1:c.-257G>A, NM_001366255.1:c.-187G>A, NM_001366268.1:c.-191G>A, NM_001366259.1:c.-222G>A, NR_158772.1:n.422G>A, NM_001366260.1:c.-195G>A, NM_001366264.1:c.55G>A, NM_001366269.1:c.-156G>A, NM_001366263.1:c.-166G>A, NM_001366267.1:c.-108G>A, NM_001366265.1:c.55G>A, NR_158775.1:n.422G>A, NM_001366256.1:c.-128G>A, NR_158782.1:n.422G>A, NR_158777.1:n.422G>A, NM_001366266.1:c.55G>A, NR_158781.1:n.422G>A, NR_158780.1:n.422G>A, NR_158776.1:n.422G>A, NM_001366270.1:c.55G>A, NM_001366271.1:c.55G>A, NM_001366278.1:c.19G>A, XR_007059335.1:n.422G>A, XM_047419294.1:c.55G>A, NP_848642.2:p.Asp7Asn, XP_016856625.1:p.Asp19Asn, XP_011539629.1:p.Asp19Asn, NP_001295064.1:p.Asp19Asn, NP_001295065.1:p.Asp19Asn, NP_001295066.1:p.Asp19Asn, NP_001353193.1:p.Asp19Asn, NP_001353194.1:p.Asp19Asn, NP_001353195.1:p.Asp19Asn, NP_001353199.1:p.Asp19Asn, NP_001353200.1:p.Asp19Asn, XP_047275250.1:p.Asp19Asn

                                    18.

                                    rs1395862398 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:32650514 (GRCh38)
                                      1:33116115 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:32650513:C:T
                                      Gene:
                                      RBBP4 (Varview), ZBTB8OS (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.32650514C>T, NC_000001.10:g.33116115C>T, NM_178547.5:c.16G>A, NM_178547.4:c.52G>A, NM_178547.3:c.52G>A, NM_178547.2:c.52G>A, XM_017001136.3:c.52G>A, XM_017001136.2:c.52G>A, XM_017001136.1:c.52G>A, XM_011541327.3:c.52G>A, XM_011541327.2:c.52G>A, XM_011541327.1:c.52G>A, NM_001330475.2:c.-159G>A, NM_001330475.1:c.-159G>A, NM_001308138.2:c.-200G>A, NM_001308138.1:c.-200G>A, NM_001308139.2:c.-194G>A, NM_001308139.1:c.-194G>A, NM_001308140.2:c.-187G>A, NM_001308140.1:c.-187G>A, NM_001308141.2:c.-160G>A, NM_001308141.1:c.-160G>A, NM_001308135.2:c.52G>A, NM_001308135.1:c.52G>A, NM_001308136.2:c.52G>A, NM_001308136.1:c.52G>A, NM_001308137.2:c.52G>A, NM_001308137.1:c.52G>A, NR_158779.1:n.419G>A, NR_158778.1:n.419G>A, NR_158774.1:n.419G>A, NM_001366258.1:c.-260G>A, NM_001366255.1:c.-190G>A, NM_001366268.1:c.-194G>A, NM_001366259.1:c.-225G>A, NR_158772.1:n.419G>A, NM_001366260.1:c.-198G>A, NM_001366264.1:c.52G>A, NM_001366269.1:c.-159G>A, NM_001366263.1:c.-169G>A, NM_001366267.1:c.-111G>A, NM_001366265.1:c.52G>A, NR_158775.1:n.419G>A, NM_001366256.1:c.-131G>A, NR_158782.1:n.419G>A, NR_158777.1:n.419G>A, NM_001366266.1:c.52G>A, NR_158781.1:n.419G>A, NR_158780.1:n.419G>A, NR_158776.1:n.419G>A, NM_001366270.1:c.52G>A, NM_001366271.1:c.52G>A, NM_001366278.1:c.16G>A, XR_007059335.1:n.419G>A, XM_047419294.1:c.52G>A, NP_848642.2:p.Glu6Lys, XP_016856625.1:p.Glu18Lys, XP_011539629.1:p.Glu18Lys, NP_001295064.1:p.Glu18Lys, NP_001295065.1:p.Glu18Lys, NP_001295066.1:p.Glu18Lys, NP_001353193.1:p.Glu18Lys, NP_001353194.1:p.Glu18Lys, NP_001353195.1:p.Glu18Lys, NP_001353199.1:p.Glu18Lys, NP_001353200.1:p.Glu18Lys, XP_047275250.1:p.Glu18Lys

                                      19.

                                      rs1365226663 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:32634037 (GRCh38)
                                        1:33099638 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:32634036:A:G
                                        Gene:
                                        ZBTB8OS (Varview)
                                        Functional Consequence:
                                        missense_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.32634037A>G, NC_000001.10:g.33099638A>G, NM_178547.5:c.158T>C, NM_178547.4:c.194T>C, NM_178547.3:c.194T>C, NM_178547.2:c.194T>C, XM_011541327.3:c.194T>C, XM_011541327.2:c.194T>C, XM_011541327.1:c.194T>C, NM_001330475.2:c.50T>C, NM_001330475.1:c.50T>C, NM_001308138.2:c.-14T>C, NM_001308138.1:c.-14T>C, NM_001308139.2:c.-14T>C, NM_001308139.1:c.-14T>C, NM_001308140.2:c.-14T>C, NM_001308140.1:c.-14T>C, NM_001308141.2:c.-14T>C, NM_001308141.1:c.-14T>C, NM_001308135.2:c.173T>C, NM_001308135.1:c.173T>C, NM_001308136.2:c.194T>C, NM_001308136.1:c.194T>C, NM_001308137.2:c.173T>C, NM_001308137.1:c.173T>C, NR_158779.1:n.561T>C, NR_158778.1:n.627T>C, NR_158774.1:n.536T>C, NM_001366258.1:c.-14T>C, NM_001366255.1:c.50T>C, NM_001366268.1:c.-14T>C, NM_001366259.1:c.-14T>C, NR_158772.1:n.665T>C, NM_001366260.1:c.-14T>C, NM_001366264.1:c.194T>C, NM_001366269.1:c.50T>C, NM_001366263.1:c.-14T>C, NM_001366267.1:c.38T>C, NM_001366265.1:c.194T>C, NR_158775.1:n.605T>C, NM_001366256.1:c.-14T>C, NR_158782.1:n.574T>C, NR_158777.1:n.536T>C, NM_001366266.1:c.194T>C, NM_001366257.1:c.-14T>C, NM_001366278.1:c.158T>C, NR_158773.1:n.222T>C, XM_047419291.1:c.50T>C, XM_047419295.1:c.50T>C, XR_007059335.1:n.561T>C, XM_047419294.1:c.194T>C, NP_848642.2:p.Phe53Ser, XP_011539629.1:p.Phe65Ser, NP_001317404.1:p.Phe17Ser, NP_001295064.1:p.Phe58Ser, NP_001295065.1:p.Phe65Ser, NP_001295066.1:p.Phe58Ser, NP_001353184.1:p.Phe17Ser, NP_001353193.1:p.Phe65Ser, NP_001353198.1:p.Phe17Ser, NP_001353196.1:p.Phe13Ser, NP_001353194.1:p.Phe65Ser, NP_001353195.1:p.Phe65Ser, XP_047275247.1:p.Phe17Ser, XP_047275251.1:p.Phe17Ser, XP_047275250.1:p.Phe65Ser

                                        20.

                                        rs1348081257 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:32633991 (GRCh38)
                                          1:33099592 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:32633990:C:T
                                          Gene:
                                          ZBTB8OS (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
                                          HGVS:
                                          NC_000001.11:g.32633991C>T, NC_000001.10:g.33099592C>T, NM_178547.5:c.204G>A, NM_178547.4:c.240G>A, NM_178547.3:c.240G>A, NM_178547.2:c.240G>A, XM_011541327.3:c.240G>A, XM_011541327.2:c.240G>A, XM_011541327.1:c.240G>A, NM_001330475.2:c.96G>A, NM_001330475.1:c.96G>A, NM_001308138.2:c.33G>A, NM_001308138.1:c.33G>A, NM_001308139.2:c.33G>A, NM_001308139.1:c.33G>A, NM_001308140.2:c.33G>A, NM_001308140.1:c.33G>A, NM_001308141.2:c.33G>A, NM_001308141.1:c.33G>A, NM_001308135.2:c.219G>A, NM_001308135.1:c.219G>A, NM_001308136.2:c.240G>A, NM_001308136.1:c.240G>A, NM_001308137.2:c.219G>A, NM_001308137.1:c.219G>A, NR_158779.1:n.607G>A, NR_158778.1:n.673G>A, NR_158774.1:n.582G>A, NM_001366258.1:c.33G>A, NM_001366255.1:c.96G>A, NM_001366268.1:c.33G>A, NM_001366259.1:c.33G>A, NR_158772.1:n.711G>A, NM_001366260.1:c.33G>A, NM_001366264.1:c.240G>A, NM_001366269.1:c.96G>A, NM_001366263.1:c.33G>A, NM_001366267.1:c.84G>A, NM_001366265.1:c.240G>A, NR_158775.1:n.651G>A, NM_001366256.1:c.33G>A, NR_158782.1:n.620G>A, NR_158777.1:n.582G>A, NM_001366266.1:c.240G>A, NM_001366257.1:c.33G>A, NM_001366278.1:c.204G>A, NR_158773.1:n.268G>A, XM_047419291.1:c.96G>A, XM_047419295.1:c.96G>A, XR_007059335.1:n.607G>A, XM_047419294.1:c.240G>A

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