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Items: 1 to 20 of 1000

1.

rs1490264141 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    16:690493 (GRCh38)
    16:740493 (GRCh37)
    Canonical SPDI:
    NC_000016.10:690492:C:T
    Gene:
    WDR24 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000007/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1489875497 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:684480 (GRCh38)
      16:734480 (GRCh37)
      Canonical SPDI:
      NC_000016.10:684479:G:A
      Gene:
      WDR24 (Varview), JMJD8 (Varview)
      Functional Consequence:
      2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
      HGVS:
      3.

      rs1489778277 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        16:686531 (GRCh38)
        16:736531 (GRCh37)
        Canonical SPDI:
        NC_000016.10:686530:C:A
        Gene:
        WDR24 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000016/2 (GnomAD)
        HGVS:
        4.

        rs1489717862 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          16:685357 (GRCh38)
          16:735357 (GRCh37)
          Canonical SPDI:
          NC_000016.10:685356:A:G
          Gene:
          WDR24 (Varview), JMJD8 (Varview)
          Functional Consequence:
          coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          G=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1489700092 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:684831 (GRCh38)
            16:734831 (GRCh37)
            Canonical SPDI:
            NC_000016.10:684830:C:T
            Gene:
            WDR24 (Varview), JMJD8 (Varview)
            Functional Consequence:
            coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
            HGVS:
            6.

            rs1489676981 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              16:684550 (GRCh38)
              16:734550 (GRCh37)
              Canonical SPDI:
              NC_000016.10:684549:CCCCC:CCCC
              Gene:
              WDR24 (Varview), JMJD8 (Varview)
              Functional Consequence:
              2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              CCCC=0.000071/1 (ALFA)
              -=0.000019/5 (TOPMED)
              HGVS:
              7.

              rs1489313051 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                16:691392 (GRCh38)
                16:741392 (GRCh37)
                Canonical SPDI:
                NC_000016.10:691391:C:T
                Gene:
                WDR24 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000023/6 (TOPMED)
                T=0.000035/1 (TOMMO)
                HGVS:
                8.

                rs1489251255 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:685063 (GRCh38)
                  16:735063 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:685062:G:A
                  Gene:
                  WDR24 (Varview), JMJD8 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_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.

                  rs1488876840 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    16:685280 (GRCh38)
                    16:735280 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:685279:T:G
                    Gene:
                    WDR24 (Varview), JMJD8 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000111/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1488701003 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      16:684880 (GRCh38)
                      16:734880 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:684879:A:C
                      Gene:
                      WDR24 (Varview), JMJD8 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1488353582 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:684146 (GRCh38)
                        16:734146 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:684145:G:A
                        Gene:
                        WDR24 (Varview), JMJD8 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        A=0.000012/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1488325942 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:684827 (GRCh38)
                          16:734827 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:684826:G:A
                          Gene:
                          WDR24 (Varview), JMJD8 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000018/3 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1487737573 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:686088 (GRCh38)
                            16:736088 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:686087:A:G
                            Gene:
                            WDR24 (Varview), JMJD8 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1487586243 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              16:690990 (GRCh38)
                              16:740990 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:690989:T:A
                              Gene:
                              WDR24 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000019/5 (TOPMED)
                              HGVS:
                              15.

                              rs1487270874 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                16:685015 (GRCh38)
                                16:735015 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:685014:G:A
                                Gene:
                                WDR24 (Varview), JMJD8 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000006/1 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1486796093 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:690032 (GRCh38)
                                  16:740032 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:690031:G:A
                                  Gene:
                                  WDR24 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1486256246 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:689446 (GRCh38)
                                    16:739446 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:689445:C:T
                                    Gene:
                                    WDR24 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485732717 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      16:686747 (GRCh38)
                                      16:736747 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:686746:G:A,NC_000016.10:686746:G:C
                                      Gene:
                                      WDR24 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000037/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1485618525 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        16:684200 (GRCh38)
                                        16:734200 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:684199:G:A
                                        Gene:
                                        WDR24 (Varview), JMJD8 (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485295166 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          16:688329 (GRCh38)
                                          16:738329 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:688328:C:A,NC_000016.10:688328:C:G
                                          Gene:
                                          WDR24 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          A=0.000685/2 (KOREAN)
                                          HGVS:

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