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Items: 1 to 20 of 9256

1.

rs1491362613 has merged into rs200943142 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    9:66915406 (GRCh38)
    9:40777438 (GRCh37)
    Canonical SPDI:
    NC_000009.12:66915397:AAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:66915397:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:66915397:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:66915397:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:66915397:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:66915397:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:66915397:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    ZNF658 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    2.

    rs1491247812 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      9:66910803 (GRCh38)
      9:40782037 (GRCh37)
      Canonical SPDI:
      NC_000009.12:66910802:TA:
      Gene:
      ZNF658 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.0007/3 (ALFA)
      HGVS:
      3.

      rs1491138156 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        9:66915410 (GRCh38)
        9:40777431 (GRCh37)
        Canonical SPDI:
        NC_000009.12:66915410::G
        Gene:
        ZNF658 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.00025/3 (ALFA)
        G=0.00025/7 (TOMMO)
        G=0.00055/1 (Korea1K)
        HGVS:
        4.

        rs1491112849 has merged into rs546463734 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
          Chromosome:
          9:66910817 (GRCh38)
          9:40782035 (GRCh37)
          Canonical SPDI:
          NC_000009.12:66910803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:66910803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:66910803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:66910803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:66910803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
          Gene:
          ZNF658 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
          T=0.475/19 (GENOME_DK)
          HGVS:
          5.

          rs1490985414 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            9:66915407 (GRCh38)
            9:40777434 (GRCh37)
            Canonical SPDI:
            NC_000009.12:66915406:A:T
            Gene:
            ZNF658 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490982937 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              9:66927106 (GRCh38)
              9:40765735 (GRCh37)
              Canonical SPDI:
              NC_000009.12:66927105:G:A,NC_000009.12:66927105:G:C
              Gene:
              ZNF658 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1490701138 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,G [Show Flanks]
                Chromosome:
                9:66928032 (GRCh38)
                9:40764809 (GRCh37)
                Canonical SPDI:
                NC_000009.12:66928031:T:A,NC_000009.12:66928031:T:G
                Gene:
                ZNF658 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1490643881 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:66908618 (GRCh38)
                  9:40784223 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:66908617:T:C
                  Gene:
                  ZNF658 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490499862 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:66932449 (GRCh38)
                    9:40760392 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:66932448:T:C
                    Gene:
                    ZNF658 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000224/1 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490413348 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:66919417 (GRCh38)
                      9:40773424 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:66919416:C:T
                      Gene:
                      ZNF658 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.002458/33 (ALFA)
                      A=0.00105/59 (GnomAD_exomes)
                      T=0.002631/323 (GnomAD)
                      T=0.002655/17 (1000Genomes)
                      HGVS:
                      11.

                      rs1490383412 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        9:66909323 (GRCh38)
                        9:40783518 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:66909321:ACA:A
                        Gene:
                        ZNF658 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490370382 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          9:66917767 (GRCh38)
                          9:40775074 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:66917766:T:A
                          Gene:
                          ZNF658 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000009/1 (GnomAD)
                          HGVS:
                          14.

                          rs1490366152 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:66920858 (GRCh38)
                            9:40771983 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:66920857:A:G
                            Gene:
                            ZNF658 (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            15.

                            rs1490342843 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              9:66899592 (GRCh38)
                              9:40793249 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:66899591:A:C
                              Gene:
                              ZNF658 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              16.

                              rs1490329730 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                9:66898811 (GRCh38)
                                9:40794030 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:66898810:A:C
                                Gene:
                                ZNF658 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                17.

                                rs1490210981 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  9:66928429 (GRCh38)
                                  9:40764412 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:66928428:T:A
                                  Gene:
                                  ZNF658 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1490146791 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CTTT>- [Show Flanks]
                                    Chromosome:
                                    9:66929027 (GRCh38)
                                    9:40763815 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:66929022:CTTTCTTT:CTTT
                                    Gene:
                                    ZNF658 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CTTTCTTT=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1490099370 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      9:66922286 (GRCh38)
                                      9:40770555 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:66922285:C:A,NC_000009.12:66922285:C:T
                                      Gene:
                                      ZNF658 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000743/12 (TOMMO)
                                      HGVS:
                                      20.

                                      rs1490050889 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        9:66909967 (GRCh38)
                                        9:40782874 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:66909966:C:A,NC_000009.12:66909966:C:G,NC_000009.12:66909966:C:T
                                        Gene:
                                        ZNF658 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:

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