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Items: 1 to 20 of 1766

1.

rs1490376000 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    11:128697183 (GRCh38)
    11:128567078 (GRCh37)
    Canonical SPDI:
    NC_000011.10:128697182:A:C
    Gene:
    FLI1 (Varview), SENCR (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1490178197 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      11:128694397 (GRCh38)
      11:128564292 (GRCh37)
      Canonical SPDI:
      NC_000011.10:128694396:C:A
      Gene:
      FLI1 (Varview), SENCR (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency
      MAF:
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489011393 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:128695054 (GRCh38)
        11:128564949 (GRCh37)
        Canonical SPDI:
        NC_000011.10:128695053:C:T
        Gene:
        FLI1 (Varview), SENCR (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1488938264 has merged into rs1267810573 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          G>-,GG [Show Flanks]
          Chromosome:
          11:128692313 (GRCh38)
          11:128562208 (GRCh37)
          Canonical SPDI:
          NC_000011.10:128692312:GGGGGGG:GGGGGG,NC_000011.10:128692312:GGGGGGG:GGGGGGGG
          Gene:
          FLI1 (Varview), SENCR (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GGGGGGGG=0./0 (ALFA)
          HGVS:
          5.

          rs1487370943 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:128693014 (GRCh38)
            11:128562909 (GRCh37)
            Canonical SPDI:
            NC_000011.10:128693013:G:A
            Gene:
            FLI1 (Varview), SENCR (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1487112501 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:128693865 (GRCh38)
              11:128563760 (GRCh37)
              Canonical SPDI:
              NC_000011.10:128693864:G:A
              Gene:
              FLI1 (Varview), SENCR (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1486831752 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:128694238 (GRCh38)
                11:128564133 (GRCh37)
                Canonical SPDI:
                NC_000011.10:128694237:C:T
                Gene:
                FLI1 (Varview), SENCR (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000137/1 (ALFA)
                T=0.000006/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1486580679 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  11:128696200 (GRCh38)
                  11:128566095 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:128696199:A:C,NC_000011.10:128696199:A:G
                  Gene:
                  FLI1 (Varview), SENCR (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  C=0.001092/2 (Korea1K)
                  HGVS:
                  9.

                  rs1486528862 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    11:128697361 (GRCh38)
                    11:128567256 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:128697360:T:A
                    Gene:
                    FLI1 (Varview), SENCR (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1485218036 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AGTG>- [Show Flanks]
                      Chromosome:
                      11:128694799 (GRCh38)
                      11:128564694 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:128694794:AGTGAGTG:AGTG
                      Gene:
                      FLI1 (Varview), SENCR (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AGTGAGTG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1485106557 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        11:128693948 (GRCh38)
                        11:128563843 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:128693947:G:C
                        Gene:
                        FLI1 (Varview), SENCR (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.00003/1 (GnomAD)
                        HGVS:
                        12.

                        rs1484905045 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:128693890 (GRCh38)
                          11:128563785 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:128693889:A:G
                          Gene:
                          FLI1 (Varview), SENCR (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.06481/189 (KOREAN)
                          HGVS:
                          13.

                          rs1484199419 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:128697547 (GRCh38)
                            11:128567442 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:128697546:T:C
                            Gene:
                            FLI1 (Varview), SENCR (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1483693110 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:128695114 (GRCh38)
                              11:128565009 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:128695113:C:T
                              Gene:
                              FLI1 (Varview), SENCR (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000014/2 (GnomAD)
                              T=0.00003/8 (TOPMED)
                              T=0.000672/11 (TOMMO)
                              T=0.001125/2 (Korea1K)
                              T=0.001717/5 (KOREAN)
                              HGVS:
                              15.

                              rs1483672401 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:128691714 (GRCh38)
                                11:128561609 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:128691713:A:G
                                Gene:
                                FLI1 (Varview), SENCR (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_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:
                                16.

                                rs1483131240 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  11:128692455 (GRCh38)
                                  11:128562350 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:128692454:A:C
                                  Gene:
                                  FLI1 (Varview), SENCR (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.0259/74 (KOREAN)
                                  HGVS:
                                  17.

                                  rs1482055248 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    11:128696336 (GRCh38)
                                    11:128566231 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:128696335:A:C
                                    Gene:
                                    FLI1 (Varview), SENCR (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1482007426 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:128695145 (GRCh38)
                                      11:128565040 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:128695144:G:A
                                      Gene:
                                      FLI1 (Varview), SENCR (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481690717 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        11:128692147 (GRCh38)
                                        11:128562042 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:128692146:G:C
                                        Gene:
                                        FLI1 (Varview), SENCR (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1481630732 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          11:128693716 (GRCh38)
                                          11:128563611 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:128693715:G:T
                                          Gene:
                                          FLI1 (Varview), SENCR (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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