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Items: 1 to 20 of 1206

2.

rs1488735362 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:1686759 (GRCh38)
    11:1707989 (GRCh37)
    Canonical SPDI:
    NC_000011.10:1686758:C:T
    Gene:
    FAM99B (Varview), LINC02708 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.00101/12 (ALFA)
    T=0.00216/6 (KOREAN)
    C=0.5/2 (SGDP_PRJ)
    HGVS:
    3.

    rs1488684789 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      11:1686400 (GRCh38)
      11:1707630 (GRCh37)
      Canonical SPDI:
      NC_000011.10:1686399:C:A,NC_000011.10:1686399:C:T
      Gene:
      FAM99B (Varview), LINC02708 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      6.

      rs1487321755 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:1689254 (GRCh38)
        11:1710484 (GRCh37)
        Canonical SPDI:
        NC_000011.10:1689253:A:G
        Gene:
        LINC02708 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        HGVS:
        7.

        rs1486673300 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:1687192 (GRCh38)
          11:1708422 (GRCh37)
          Canonical SPDI:
          NC_000011.10:1687191:C:T
          Gene:
          FAM99B (Varview), LINC02708 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          8.

          rs1486514767 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            11:1687818 (GRCh38)
            11:1709048 (GRCh37)
            Canonical SPDI:
            NC_000011.10:1687817:G:T
            Gene:
            LINC02708 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            9.

            rs1486221430 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              11:1686834 (GRCh38)
              11:1708064 (GRCh37)
              Canonical SPDI:
              NC_000011.10:1686833:C:G
              Gene:
              FAM99B (Varview), LINC02708 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              10.

              rs1486190262 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:1687357 (GRCh38)
                11:1708587 (GRCh37)
                Canonical SPDI:
                NC_000011.10:1687356:A:G
                Gene:
                FAM99B (Varview), LINC02708 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                11.

                rs1486102004 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  11:1685920 (GRCh38)
                  11:1707150 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:1685919:C:A,NC_000011.10:1685919:C:T
                  Gene:
                  FAM99B (Varview), LINC02708 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000022/3 (GnomAD)
                  HGVS:
                  12.

                  rs1486047650 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    11:1686365 (GRCh38)
                    11:1707595 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:1686364:C:A,NC_000011.10:1686364:C:G,NC_000011.10:1686364:C:T
                    Gene:
                    FAM99B (Varview), LINC02708 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    T=0.000035/1 (TOMMO)
                    T=0.000185/26 (GnomAD)
                    T=0.000312/2 (1000Genomes)
                    HGVS:
                    13.

                    rs1485765377 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      11:1687247 (GRCh38)
                      11:1708477 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:1687246:C:A
                      Gene:
                      FAM99B (Varview), LINC02708 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      14.

                      rs1485450691 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        T>-
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        15.

                        rs1485400424 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:1687009 (GRCh38)
                          11:1708239 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:1687008:C:T
                          Gene:
                          FAM99B (Varview), LINC02708 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          16.

                          rs1484654953 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G,T [Show Flanks]
                            Chromosome:
                            11:1686799 (GRCh38)
                            11:1708029 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:1686798:C:A,NC_000011.10:1686798:C:G,NC_000011.10:1686798:C:T
                            Gene:
                            FAM99B (Varview), LINC02708 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0./0 (GnomAD)
                            T=0.00096/15 (TOMMO)
                            T=0.0158/43 (KOREAN)
                            C=0.5/3 (SGDP_PRJ)
                            HGVS:
                            17.

                            rs1484578776 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CTTCCTTCTCTGCTCCCTCCCTCCCTCC>- [Show Flanks]
                              Chromosome:
                              11:1686684 (GRCh38)
                              11:1707914 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:1686674:CCTCCCTCCCTTCCTTCTCTGCTCCCTCCCTCCCTCC:CCTCCCTCC
                              Gene:
                              FAM99B (Varview), LINC02708 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CCTCCCTCC=0.000169/2 (ALFA)
                              -=0.000516/55 (GnomAD)
                              HGVS:
                              18.

                              rs1484305229 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:1686295 (GRCh38)
                                11:1707525 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:1686294:C:T
                                Gene:
                                FAM99B (Varview), LINC02708 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                19.

                                rs1484273204 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:1686670 (GRCh38)
                                  11:1707900 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:1686669:C:T
                                  Gene:
                                  FAM99B (Varview), LINC02708 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  20.

                                  rs1484224854 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    11:1686857 (GRCh38)
                                    11:1708087 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:1686856:CCC:CC
                                    Gene:
                                    FAM99B (Varview), LINC02708 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CC=0./0 (ALFA)
                                    -=0.00007/1 (TOMMO)
                                    HGVS:

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