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Items: 1 to 20 of 796

1.

rs1491383734 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A,AA,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA [Show Flanks]
    Chromosome:
    2:109989377 (GRCh38)
    2:110746955 (GRCh37)
    Canonical SPDI:
    NC_000002.12:109989377::A,NC_000002.12:109989377::AA,NC_000002.12:109989377::ATA,NC_000002.12:109989377::ATATA,NC_000002.12:109989377::ATATATA,NC_000002.12:109989377::ATATATATA,NC_000002.12:109989377::ATATATATATA,NC_000002.12:109989377::ATATATATATATA
    Gene:
    LINC01123 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AA=0./0 (ALFA)
    A=0.0687/18 (Korea1K)
    HGVS:
    2.

    rs1491223961 has merged into rs1231377281 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      2:109989389 (GRCh38)
      2:110746966 (GRCh37)
      Canonical SPDI:
      NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:109989376:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      LINC01123 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTT=0./0 (ALFA)
      TTTTTT=0.04737/9 (Korea1K)
      HGVS:
      NC_000002.12:g.109989389_109989397del, NC_000002.12:g.109989393_109989397del, NC_000002.12:g.109989394_109989397del, NC_000002.12:g.109989395_109989397del, NC_000002.12:g.109989396_109989397del, NC_000002.12:g.109989397del, NC_000002.12:g.109989397dup, NC_000002.12:g.109989396_109989397dup, NC_000002.12:g.109989395_109989397dup, NC_000002.12:g.109989394_109989397dup, NC_000002.12:g.109989393_109989397dup, NC_000002.12:g.109989392_109989397dup, NC_000002.12:g.109989391_109989397dup, NC_000002.12:g.109989389_109989397dup, NC_000002.12:g.109989388_109989397dup, NC_000002.12:g.109989387_109989397dup, NC_000002.12:g.109989382_109989397dup, NC_000002.11:g.110746966_110746974del, NC_000002.11:g.110746970_110746974del, NC_000002.11:g.110746971_110746974del, NC_000002.11:g.110746972_110746974del, NC_000002.11:g.110746973_110746974del, NC_000002.11:g.110746974del, NC_000002.11:g.110746974dup, NC_000002.11:g.110746973_110746974dup, NC_000002.11:g.110746972_110746974dup, NC_000002.11:g.110746971_110746974dup, NC_000002.11:g.110746970_110746974dup, NC_000002.11:g.110746969_110746974dup, NC_000002.11:g.110746968_110746974dup, NC_000002.11:g.110746966_110746974dup, NC_000002.11:g.110746965_110746974dup, NC_000002.11:g.110746964_110746974dup, NC_000002.11:g.110746959_110746974dup
      3.

      rs1490570927 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:109994527 (GRCh38)
        2:110752104 (GRCh37)
        Canonical SPDI:
        NC_000002.12:109994526:C:T
        Gene:
        LINC01123 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.00008/1 (ALFA)
        T=0.00016/1 (1000Genomes)
        T=0.00027/7 (GnomAD)
        C=0.5/2 (SGDP_PRJ)
        HGVS:
        4.

        rs1490067896 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          2:109989383 (GRCh38)
          2:110746960 (GRCh37)
          Canonical SPDI:
          NC_000002.12:109989382:T:A
          Gene:
          LINC01123 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.00082/13 (GnomAD)
          A=0.00465/13 (TOMMO)
          HGVS:
          5.

          rs1489407534 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            2:109988831 (GRCh38)
            2:110746408 (GRCh37)
            Canonical SPDI:
            NC_000002.12:109988830:T:
            Gene:
            LINC01123 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1489362714 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              2:109985515 (GRCh38)
              2:110743092 (GRCh37)
              Canonical SPDI:
              NC_000002.12:109985514:G:A,NC_000002.12:109985514:G:C
              Gene:
              LINC01123 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.000114/14 (GnomAD)
              A=0.000312/2 (1000Genomes)
              HGVS:
              7.

              rs1488696186 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                2:109985483 (GRCh38)
                2:110743060 (GRCh37)
                Canonical SPDI:
                NC_000002.12:109985482:A:C
                Gene:
                LINC01123 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1488568893 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  2:109986243 (GRCh38)
                  2:110743820 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:109986242:A:C
                  Gene:
                  LINC01123 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000084/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488568390 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    2:109985510 (GRCh38)
                    2:110743087 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:109985509:G:C
                    Gene:
                    LINC01123 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1488560686 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      2:109989381 (GRCh38)
                      2:110746958 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:109989380:T:A
                      Gene:
                      LINC01123 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.00008/1 (ALFA)
                      A=0.00645/18 (TOMMO)
                      T=0.5/1 (SGDP_PRJ)
                      HGVS:
                      11.

                      rs1488239916 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        2:109985025 (GRCh38)
                        2:110742602 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:109985024:G:C
                        Gene:
                        LINC01123 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1486910005 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:109994997 (GRCh38)
                          2:110752574 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:109994996:A:G
                          Gene:
                          LINC01123 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.00034/4 (ALFA)
                          G=0.00109/7 (1000Genomes)
                          G=0.00163/27 (GnomAD)
                          HGVS:
                          13.

                          rs1486846051 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:109993959 (GRCh38)
                            2:110751536 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:109993958:T:C
                            Gene:
                            LINC01123 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1486099598 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:109994605 (GRCh38)
                              2:110752182 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:109994604:A:G
                              Gene:
                              LINC01123 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1485294118 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:109994235 (GRCh38)
                                2:110751812 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:109994234:G:A
                                Gene:
                                LINC01123 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.00003/4 (GnomAD)
                                A=0.000057/15 (TOPMED)
                                A=0.000354/6 (TOMMO)
                                A=0.002732/5 (Korea1K)
                                A=0.003097/9 (KOREAN)
                                HGVS:
                                16.

                                rs1485210920 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:109992079 (GRCh38)
                                  2:110749656 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:109992078:C:T
                                  Gene:
                                  LINC01123 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1484948442 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:109985883 (GRCh38)
                                    2:110743460 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:109985882:G:A
                                    Gene:
                                    LINC01123 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.00008/1 (ALFA)
                                    HGVS:
                                    18.

                                    rs1484462884 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      2:109994078 (GRCh38)
                                      2:110751655 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:109994077:C:A
                                      Gene:
                                      LINC01123 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1482845520 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:109988326 (GRCh38)
                                        2:110745903 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:109988325:T:C
                                        Gene:
                                        LINC01123 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1481527788 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          2:109994376 (GRCh38)
                                          2:110751953 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:109994375:G:
                                          Gene:
                                          LINC01123 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0./0 (ALFA)
                                          -=0.000011/1 (GnomAD)
                                          -=0.000015/4 (TOPMED)
                                          -=0.000781/5 (1000Genomes)
                                          HGVS:

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