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Items: 1 to 20 of 1044

1.

rs1490243980 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C,T [Show Flanks]
    Chromosome:
    9:96872624 (GRCh38)
    9:99634906 (GRCh37)
    Canonical SPDI:
    NC_000009.12:96872623:G:C,NC_000009.12:96872623:G:T
    Gene:
    ZNF782 (Varview), LOC100132781 (Varview)
    Functional Consequence:
    500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489216658 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      9:96869803 (GRCh38)
      9:99632085 (GRCh37)
      Canonical SPDI:
      NC_000009.12:96869802:T:C
      Gene:
      ZNF782 (Varview), LOC100132781 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1486285254 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:96867794 (GRCh38)
        9:99630076 (GRCh37)
        Canonical SPDI:
        NC_000009.12:96867793:G:A
        Gene:
        ZNF782 (Varview), LOC100132781 (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1485926096 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          9:96867355 (GRCh38)
          9:99629637 (GRCh37)
          Canonical SPDI:
          NC_000009.12:96867354:A:G
          Gene:
          ZNF782 (Varview), LOC100132781 (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1485649333 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:96867799 (GRCh38)
            9:99630081 (GRCh37)
            Canonical SPDI:
            NC_000009.12:96867798:C:T
            Gene:
            ZNF782 (Varview), LOC100132781 (Varview)
            Functional Consequence:
            upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1485266818 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:96870359 (GRCh38)
              9:99632641 (GRCh37)
              Canonical SPDI:
              NC_000009.12:96870358:C:T
              Gene:
              ZNF782 (Varview), LOC100132781 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000014/2 (GnomAD)
              T=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1485204893 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:96867321 (GRCh38)
                9:99629603 (GRCh37)
                Canonical SPDI:
                NC_000009.12:96867320:C:T
                Gene:
                ZNF782 (Varview), LOC100132781 (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1484876495 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:96871789 (GRCh38)
                  9:99634071 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:96871788:T:C
                  Gene:
                  ZNF782 (Varview), LOC100132781 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1484278180 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:96868752 (GRCh38)
                    9:99631034 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:96868751:T:C
                    Gene:
                    ZNF782 (Varview), LOC100132781 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000023/6 (TOPMED)
                    C=0.000036/5 (GnomAD)
                    HGVS:
                    10.

                    rs1484203121 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      9:96867267 (GRCh38)
                      9:99629549 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:96867266:T:G
                      Gene:
                      ZNF782 (Varview), LOC100132781 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1483682075 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        9:96868905 (GRCh38)
                        9:99631187 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:96868904:A:T
                        Gene:
                        ZNF782 (Varview), LOC100132781 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1483643134 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:96871864 (GRCh38)
                          9:99634146 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:96871863:T:C
                          Gene:
                          ZNF782 (Varview), LOC100132781 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000447/2 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000446/2 (Estonian)
                          HGVS:
                          13.

                          rs1483618632 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:96870689 (GRCh38)
                            9:99632971 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:96870688:A:G
                            Gene:
                            ZNF782 (Varview), LOC100132781 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1482510144 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:96870929 (GRCh38)
                              9:99633211 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:96870928:G:A
                              Gene:
                              ZNF782 (Varview), LOC100132781 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1482240211 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                9:96870032 (GRCh38)
                                9:99632314 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:96870031:A:C
                                Gene:
                                ZNF782 (Varview), LOC100132781 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1481726289 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  9:96870260 (GRCh38)
                                  9:99632542 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:96870259:T:G
                                  Gene:
                                  ZNF782 (Varview), LOC100132781 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481191593 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    9:96868404 (GRCh38)
                                    9:99630686 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:96868403:C:T
                                    Gene:
                                    ZNF782 (Varview), LOC100132781 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480733264 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      9:96870887 (GRCh38)
                                      9:99633169 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:96870886:T:C
                                      Gene:
                                      ZNF782 (Varview), LOC100132781 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480539680 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        9:96871492 (GRCh38)
                                        9:99633774 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:96871491:C:
                                        Gene:
                                        ZNF782 (Varview), LOC100132781 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1480415460 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          9:96871404 (GRCh38)
                                          9:99633686 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:96871403:C:G
                                          Gene:
                                          ZNF782 (Varview), LOC100132781 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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