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Items: 1 to 20 of 1622

1.

rs1491525184 has merged into rs11345114 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    2:174330517 (GRCh38)
    2:175195245 (GRCh37)
    Canonical SPDI:
    NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:174330510:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LINC01305 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAA=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.174330517_174330526del, NC_000002.12:g.174330518_174330526del, NC_000002.12:g.174330519_174330526del, NC_000002.12:g.174330520_174330526del, NC_000002.12:g.174330521_174330526del, NC_000002.12:g.174330522_174330526del, NC_000002.12:g.174330523_174330526del, NC_000002.12:g.174330524_174330526del, NC_000002.12:g.174330525_174330526del, NC_000002.12:g.174330526del, NC_000002.12:g.174330526dup, NC_000002.12:g.174330525_174330526dup, NC_000002.12:g.174330524_174330526dup, NC_000002.12:g.174330523_174330526dup, NC_000002.12:g.174330522_174330526dup, NC_000002.12:g.174330521_174330526dup, NC_000002.12:g.174330520_174330526dup, NC_000002.12:g.174330519_174330526dup, NC_000002.12:g.174330518_174330526dup, NC_000002.12:g.174330517_174330526dup, NC_000002.12:g.174330516_174330526dup, NC_000002.12:g.174330515_174330526dup, NC_000002.12:g.174330514_174330526dup, NC_000002.12:g.174330513_174330526dup, NC_000002.12:g.174330512_174330526dup, NC_000002.12:g.174330526_174330527insAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.175195245_175195254del, NC_000002.11:g.175195246_175195254del, NC_000002.11:g.175195247_175195254del, NC_000002.11:g.175195248_175195254del, NC_000002.11:g.175195249_175195254del, NC_000002.11:g.175195250_175195254del, NC_000002.11:g.175195251_175195254del, NC_000002.11:g.175195252_175195254del, NC_000002.11:g.175195253_175195254del, NC_000002.11:g.175195254del, NC_000002.11:g.175195254dup, NC_000002.11:g.175195253_175195254dup, NC_000002.11:g.175195252_175195254dup, NC_000002.11:g.175195251_175195254dup, NC_000002.11:g.175195250_175195254dup, NC_000002.11:g.175195249_175195254dup, NC_000002.11:g.175195248_175195254dup, NC_000002.11:g.175195247_175195254dup, NC_000002.11:g.175195246_175195254dup, NC_000002.11:g.175195245_175195254dup, NC_000002.11:g.175195244_175195254dup, NC_000002.11:g.175195243_175195254dup, NC_000002.11:g.175195242_175195254dup, NC_000002.11:g.175195241_175195254dup, NC_000002.11:g.175195240_175195254dup, NC_000002.11:g.175195254_175195255insAAAAAAAAAAAAAAAAAAAAAAA, NR_038897.1:n.2997_3006del, NR_038897.1:n.2998_3006del, NR_038897.1:n.2999_3006del, NR_038897.1:n.3000_3006del, NR_038897.1:n.3001_3006del, NR_038897.1:n.3002_3006del, NR_038897.1:n.3003_3006del, NR_038897.1:n.3004_3006del, NR_038897.1:n.3005_3006del, NR_038897.1:n.3006del, NR_038897.1:n.3006dup, NR_038897.1:n.3005_3006dup, NR_038897.1:n.3004_3006dup, NR_038897.1:n.3003_3006dup, NR_038897.1:n.3002_3006dup, NR_038897.1:n.3001_3006dup, NR_038897.1:n.3000_3006dup, NR_038897.1:n.2999_3006dup, NR_038897.1:n.2998_3006dup, NR_038897.1:n.2997_3006dup, NR_038897.1:n.2996_3006dup, NR_038897.1:n.2995_3006dup, NR_038897.1:n.2994_3006dup, NR_038897.1:n.2993_3006dup, NR_038897.1:n.2992_3006dup, NR_038897.1:n.3006_3007insAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1489254536 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:174327511 (GRCh38)
      2:175192239 (GRCh37)
      Canonical SPDI:
      NC_000002.12:174327510:A:G
      Gene:
      LINC01305 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1489132802 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:174327778 (GRCh38)
        2:175192506 (GRCh37)
        Canonical SPDI:
        NC_000002.12:174327777:G:A
        Gene:
        LINC01305 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000019/5 (TOPMED)
        A=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1488948799 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:174328471 (GRCh38)
          2:175193199 (GRCh37)
          Canonical SPDI:
          NC_000002.12:174328470:G:A
          Gene:
          LINC01305 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1488926458 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            2:174328001 (GRCh38)
            2:175192729 (GRCh37)
            Canonical SPDI:
            NC_000002.12:174328000:C:A
            Gene:
            LINC01305 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000014/2 (GnomAD)
            A=0.000076/20 (TOPMED)
            HGVS:
            6.

            rs1488618808 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              2:174328862 (GRCh38)
              2:175193590 (GRCh37)
              Canonical SPDI:
              NC_000002.12:174328861:G:C
              Gene:
              LINC01305 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1487672619 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:174328741 (GRCh38)
                2:175193469 (GRCh37)
                Canonical SPDI:
                NC_000002.12:174328740:C:T
                Gene:
                LINC01305 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1487302389 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:174324359 (GRCh38)
                  2:175189087 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:174324358:A:G
                  Gene:
                  LINC01305 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1486451379 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    2:174326683 (GRCh38)
                    2:175191411 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:174326682:C:A,NC_000002.12:174326682:C:T
                    Gene:
                    LINC01305 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1486367826 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      2:174327028 (GRCh38)
                      2:175191756 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:174327027:C:A,NC_000002.12:174327027:C:G,NC_000002.12:174327027:C:T
                      Gene:
                      LINC01305 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      T=0.00034/1 (KOREAN)
                      HGVS:
                      11.

                      rs1486330956 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:174329991 (GRCh38)
                        2:175194719 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:174329990:C:T
                        Gene:
                        LINC01305 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1486301322 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          2:174330909 (GRCh38)
                          2:175195637 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:174330908:T:G
                          Gene:
                          LINC01305 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1485873784 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:174326115 (GRCh38)
                            2:175190843 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:174326114:T:C
                            Gene:
                            LINC01305 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1485862408 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              2:174325922 (GRCh38)
                              2:175190650 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:174325921:CC:C
                              Gene:
                              LINC01305 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CC=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1483540605 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:174324150 (GRCh38)
                                2:175188878 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:174324149:A:G
                                Gene:
                                LINC01305 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483351019 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GA [Show Flanks]
                                  Chromosome:
                                  2:174330524 (GRCh38)
                                  2:175195253 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:174330524:A:AGA
                                  Gene:
                                  LINC01305 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AGA=0.000084/1 (ALFA)
                                  AG=0.000004/1 (TOPMED)
                                  AG=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1483075280 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:174328945 (GRCh38)
                                    2:175193673 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:174328944:C:T
                                    Gene:
                                    LINC01305 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483045803 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:174330121 (GRCh38)
                                      2:175194849 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:174330120:G:A
                                      Gene:
                                      LINC01305 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000026/7 (TOPMED)
                                      A=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1482603694 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:174324165 (GRCh38)
                                        2:175188893 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:174324164:C:T
                                        Gene:
                                        LINC01305 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1482399078 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          2:174326332 (GRCh38)
                                          2:175191060 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:174326331:C:A
                                          Gene:
                                          LINC01305 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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