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Items: 1 to 20 of 2400

1.

rs1491046778 has merged into rs35535845 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTT>-,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    12:39090664 (GRCh38)
    12:39484466 (GRCh37)
    Canonical SPDI:
    NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:39090655:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LINC02406 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    2.

    rs1490816293 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      12:39094050 (GRCh38)
      12:39487852 (GRCh37)
      Canonical SPDI:
      NC_000012.12:39094049:C:A
      Gene:
      LINC02406 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490677631 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        12:39095106 (GRCh38)
        12:39488908 (GRCh37)
        Canonical SPDI:
        NC_000012.12:39095105:G:T
        Gene:
        LINC02406 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490537550 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          12:39096405 (GRCh38)
          12:39490207 (GRCh37)
          Canonical SPDI:
          NC_000012.12:39096404:G:T
          Gene:
          LINC02406 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490397754 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            12:39087005 (GRCh38)
            12:39480807 (GRCh37)
            Canonical SPDI:
            NC_000012.12:39087004:C:G,NC_000012.12:39087004:C:T
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.00006/16 (TOPMED)
            HGVS:
            6.

            rs1490328515 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              12:39094606 (GRCh38)
              12:39488408 (GRCh37)
              Canonical SPDI:
              NC_000012.12:39094605:T:C
              Gene:
              LINC02406 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490244556 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:39096414 (GRCh38)
                12:39490216 (GRCh37)
                Canonical SPDI:
                NC_000012.12:39096413:A:G
                Gene:
                LINC02406 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000021/3 (GnomAD)
                G=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1489189511 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  12:39096105 (GRCh38)
                  12:39489907 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:39096104:C:T
                  Gene:
                  LINC02406 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  T=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1487819640 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C,T [Show Flanks]
                    Chromosome:
                    12:39090646 (GRCh38)
                    12:39484448 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:39090645:G:C,NC_000012.12:39090645:G:T
                    Gene:
                    LINC02406 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/1 (GnomAD)
                    HGVS:
                    10.

                    rs1486984751 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:39094209 (GRCh38)
                      12:39488011 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:39094208:G:A
                      Gene:
                      LINC02406 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1486471789 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:39096986 (GRCh38)
                        12:39490788 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:39096985:T:C
                        Gene:
                        LINC02406 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1486351436 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          12:39090278 (GRCh38)
                          12:39484080 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:39090277:G:C
                          Gene:
                          LINC02406 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.000015/4 (TOPMED)
                          C=0.00463/1 (Vietnamese)
                          HGVS:
                          13.

                          rs1485260474 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            12:39092156 (GRCh38)
                            12:39485958 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:39092155:C:T
                            Gene:
                            LINC02406 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1485205087 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              12:39091202 (GRCh38)
                              12:39485004 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:39091201:G:A,NC_000012.12:39091201:G:C,NC_000012.12:39091201:G:T
                              Gene:
                              LINC02406 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1484619910 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                12:39095265 (GRCh38)
                                12:39489067 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:39095264:T:A
                                Gene:
                                LINC02406 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1484618501 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:39087369 (GRCh38)
                                  12:39481171 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:39087368:A:G
                                  Gene:
                                  LINC02406 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000064/9 (GnomAD)
                                  G=0.008333/5 (NorthernSweden)
                                  A=0.5/1 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs1484560568 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:39097255 (GRCh38)
                                    12:39491057 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:39097254:C:T
                                    Gene:
                                    LINC02406 (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:
                                    18.

                                    rs1483937167 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:39088935 (GRCh38)
                                      12:39482737 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:39088934:C:T
                                      Gene:
                                      LINC02406 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1483719654 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        12:39089493 (GRCh38)
                                        12:39483295 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:39089492:C:G,NC_000012.12:39089492:C:T
                                        Gene:
                                        LINC02406 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1483313595 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:39093257 (GRCh38)
                                          12:39487059 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:39093256:A:G
                                          Gene:
                                          LINC02406 (Varview)
                                          Functional Consequence:
                                          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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