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Items: 1 to 20 of 2393

1.

rs1491285102 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    14:64470613 (GRCh38)
    14:64937331 (GRCh37)
    Canonical SPDI:
    NC_000014.9:64470609:AGAGA:AGA
    Gene:
    ZBTB25 (Varview), AKAP5 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGA=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000546/1 (Korea1K)
    HGVS:
    2.

    rs1490934938 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      14:64474639 (GRCh38)
      14:64941357 (GRCh37)
      Canonical SPDI:
      NC_000014.9:64474638:T:C
      Gene:
      ZBTB25 (Varview), AKAP5 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_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:
      3.

      rs1490514767 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        14:64466235 (GRCh38)
        14:64932953 (GRCh37)
        Canonical SPDI:
        NC_000014.9:64466234:A:T
        Gene:
        ZBTB25 (Varview), AKAP5 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1489830794 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          14:64473545 (GRCh38)
          14:64940263 (GRCh37)
          Canonical SPDI:
          NC_000014.9:64473544:C:T
          Gene:
          ZBTB25 (Varview), AKAP5 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000224/1 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489701377 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:64468026 (GRCh38)
            14:64934744 (GRCh37)
            Canonical SPDI:
            NC_000014.9:64468025:T:C
            Gene:
            ZBTB25 (Varview), AKAP5 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1489576172 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              14:64464178 (GRCh38)
              14:64930896 (GRCh37)
              Canonical SPDI:
              NC_000014.9:64464177:A:G
              Gene:
              ZBTB25 (Varview), AKAP5 (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489004886 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:64464157 (GRCh38)
                14:64930875 (GRCh37)
                Canonical SPDI:
                NC_000014.9:64464156:C:T
                Gene:
                ZBTB25 (Varview), AKAP5 (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1488737522 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  14:64471842 (GRCh38)
                  14:64938560 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:64471841:G:A
                  Gene:
                  ZBTB25 (Varview), AKAP5 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000015/4 (TOPMED)
                  A=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1488595203 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    14:64463749 (GRCh38)
                    14:64930467 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:64463748:A:T
                    Gene:
                    ZBTB25 (Varview), AKAP5 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488375991 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      14:64471671 (GRCh38)
                      14:64938389 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:64471670:T:C
                      Gene:
                      ZBTB25 (Varview), AKAP5 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000264/4 (ALFA)
                      C=0.000021/3 (GnomAD)
                      C=0.000893/4 (Estonian)
                      HGVS:
                      11.

                      rs1487644346 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:64465669 (GRCh38)
                        14:64932387 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:64465668:G:A
                        Gene:
                        ZBTB25 (Varview), AKAP5 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000019/5 (TOPMED)
                        A=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1487408025 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:64464649 (GRCh38)
                          14:64931367 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:64464648:T:C
                          Gene:
                          ZBTB25 (Varview), AKAP5 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1487293450 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:64468019 (GRCh38)
                            14:64934737 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:64468018:G:A
                            Gene:
                            ZBTB25 (Varview), AKAP5 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1487137640 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CATTTCTAACTTCATCCATA>- [Show Flanks]
                              Chromosome:
                              14:64473550 (GRCh38)
                              14:64940268 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:64473535:TAACTTCATCCATACATTTCTAACTTCATCCATA:TAACTTCATCCATA
                              Gene:
                              ZBTB25 (Varview), AKAP5 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TAACTTCATCCATA=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1486806151 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                14:64471990 (GRCh38)
                                14:64938708 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:64471989:T:A,NC_000014.9:64471989:T:C
                                Gene:
                                ZBTB25 (Varview), AKAP5 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1485817201 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  14:64471404 (GRCh38)
                                  14:64938122 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:64471403:G:A
                                  Gene:
                                  ZBTB25 (Varview), AKAP5 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000029/4 (GnomAD)
                                  A=0.00006/16 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485785503 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    14:64470567 (GRCh38)
                                    14:64937285 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:64470566:G:A
                                    Gene:
                                    ZBTB25 (Varview), AKAP5 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000008/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485770411 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      14:64465142 (GRCh38)
                                      14:64931860 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:64465141:G:A,NC_000014.9:64465141:G:C,NC_000014.9:64465141:G:T
                                      Gene:
                                      ZBTB25 (Varview), AKAP5 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1485724582 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->TCA [Show Flanks]
                                        Chromosome:
                                        14:64468174 (GRCh38)
                                        14:64934893 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:64468174:TCATCA:TCATCATCA
                                        Gene:
                                        ZBTB25 (Varview), AKAP5 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        TCATCATCA=0./0 (ALFA)
                                        TCA=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485628798 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          14:64472927 (GRCh38)
                                          14:64939645 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:64472926:T:C
                                          Gene:
                                          ZBTB25 (Varview), AKAP5 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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