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Items: 1 to 20 of 4435

1.

rs1491503375 has merged into rs770302763 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
    Chromosome:
    2:64854565 (GRCh38)
    2:65081699 (GRCh37)
    Canonical SPDI:
    NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:64854555:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
    Gene:
    LINC01800 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTT=0./0 (ALFA)
    T=0.00021/4 (TOMMO)
    TTTTTTTTT=0.43204/1602 (TWINSUK)
    TTTTTTTTT=0.44733/1724 (ALSPAC)
    HGVS:
    2.

    rs1491491589 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      2:64856304 (GRCh38)
      2:65083438 (GRCh37)
      Canonical SPDI:
      NC_000002.12:64856303:TA:
      Gene:
      LINC01800 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491487615 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        2:64864626 (GRCh38)
        2:65091760 (GRCh37)
        Canonical SPDI:
        NC_000002.12:64864625:GA:
        Gene:
        LINC01800 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1491332699 has merged into rs70937374 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
          Chromosome:
          2:64854495 (GRCh38)
          2:65081629 (GRCh37)
          Canonical SPDI:
          NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:64854485:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
          Gene:
          LINC01800 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAA=0./0 (ALFA)
          A=0.0134/67 (1000Genomes)
          HGVS:
          5.

          rs1491125160 has merged into rs111597526 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
            Chromosome:
            2:64856310 (GRCh38)
            2:65083444 (GRCh37)
            Canonical SPDI:
            NC_000002.12:64856304:AAAAAAAAA:AAAAA,NC_000002.12:64856304:AAAAAAAAA:AAAAAA,NC_000002.12:64856304:AAAAAAAAA:AAAAAAA,NC_000002.12:64856304:AAAAAAAAA:AAAAAAAA,NC_000002.12:64856304:AAAAAAAAA:AAAAAAAAAA
            Gene:
            LINC01800 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAA=0./0 (ALFA)
            -=0.00167/1 (NorthernSweden)
            A=0.00218/4 (Korea1K)
            HGVS:
            6.

            rs1491123004 has merged into rs57808343 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CACACACACACACACACACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
              Chromosome:
              2:64864644 (GRCh38)
              2:65091778 (GRCh37)
              Canonical SPDI:
              NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:64864626:ACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
              Gene:
              LINC01800 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ACACACACACACACACACA=0./0 (ALFA)
              ACACACACACACAC=0.5/20 (GENOME_DK)
              HGVS:
              NC_000002.12:g.64864628CA[8], NC_000002.12:g.64864628CA[9], NC_000002.12:g.64864628CA[11], NC_000002.12:g.64864628CA[12], NC_000002.12:g.64864628CA[13], NC_000002.12:g.64864628CA[14], NC_000002.12:g.64864628CA[15], NC_000002.12:g.64864628CA[16], NC_000002.12:g.64864628CA[17], NC_000002.12:g.64864628CA[18], NC_000002.12:g.64864628CA[19], NC_000002.12:g.64864628CA[20], NC_000002.12:g.64864628CA[21], NC_000002.12:g.64864628CA[22], NC_000002.12:g.64864628CA[23], NC_000002.12:g.64864628CA[24], NC_000002.12:g.64864628CA[25], NC_000002.12:g.64864628CA[27], NC_000002.12:g.64864628CA[28], NC_000002.12:g.64864628CA[29], NC_000002.12:g.64864628CA[30], NC_000002.12:g.64864628CA[31], NC_000002.12:g.64864628CA[32], NC_000002.12:g.64864628CA[33], NC_000002.12:g.64864628CA[34], NC_000002.12:g.64864628CA[35], NC_000002.12:g.64864628CA[36], NC_000002.11:g.65091762CA[8], NC_000002.11:g.65091762CA[9], NC_000002.11:g.65091762CA[11], NC_000002.11:g.65091762CA[12], NC_000002.11:g.65091762CA[13], NC_000002.11:g.65091762CA[14], NC_000002.11:g.65091762CA[15], NC_000002.11:g.65091762CA[16], NC_000002.11:g.65091762CA[17], NC_000002.11:g.65091762CA[18], NC_000002.11:g.65091762CA[19], NC_000002.11:g.65091762CA[20], NC_000002.11:g.65091762CA[21], NC_000002.11:g.65091762CA[22], NC_000002.11:g.65091762CA[23], NC_000002.11:g.65091762CA[24], NC_000002.11:g.65091762CA[25], NC_000002.11:g.65091762CA[27], NC_000002.11:g.65091762CA[28], NC_000002.11:g.65091762CA[29], NC_000002.11:g.65091762CA[30], NC_000002.11:g.65091762CA[31], NC_000002.11:g.65091762CA[32], NC_000002.11:g.65091762CA[33], NC_000002.11:g.65091762CA[34], NC_000002.11:g.65091762CA[35], NC_000002.11:g.65091762CA[36]
              7.

              rs1491047847 has merged into rs36022450 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>-,T,TTT,TTTT,TTTTT,TTTTTTT [Show Flanks]
                Chromosome:
                2:64864938 (GRCh38)
                2:65092072 (GRCh37)
                Canonical SPDI:
                NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:64864925:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                Gene:
                LINC01800 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTT=0.0003/2 (ALFA)
                -=0.35/14 (GENOME_DK)
                -=0.4623/2315 (1000Genomes)
                HGVS:
                8.

                rs1491036228 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CACACAGA,CACAGA,CAGA [Show Flanks]
                  Chromosome:
                  2:64864678 (GRCh38)
                  2:65091813 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:64864678:A:ACACACAGA,NC_000002.12:64864678:A:ACACAGA,NC_000002.12:64864678:A:ACAGA
                  Gene:
                  LINC01800 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ACAGA=0./0 (ALFA)
                  ACAG=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1491007413 has merged into rs796346896 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    C>-,CC [Show Flanks]
                    Chromosome:
                    2:64865090 (GRCh38)
                    2:65092224 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:64865089:CCCCCCC:CCCCCC,NC_000002.12:64865089:CCCCCCC:CCCCCCCC
                    Gene:
                    LINC01800 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CCCCCCCC=0./0 (ALFA)
                    -=0.00004/1 (TOMMO)
                    HGVS:
                    10.

                    rs1490876247 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      2:64849533 (GRCh38)
                      2:65076667 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:64849532:T:G
                      Gene:
                      LINC01800 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490849834 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:64846807 (GRCh38)
                        2:65073941 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:64846806:C:T
                        Gene:
                        LINC01800 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490440333 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:64851267 (GRCh38)
                          2:65078401 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:64851266:G:C
                          Gene:
                          LINC01800 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490407428 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:64865157 (GRCh38)
                            2:65092291 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:64865156:G:A
                            Gene:
                            LINC01800 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1490105097 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              2:64852451 (GRCh38)
                              2:65079585 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:64852450:G:A,NC_000002.12:64852450:G:C
                              Gene:
                              LINC01800 (Varview)
                              Functional Consequence:
                              intron_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:
                              15.

                              rs1490100391 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:64852073 (GRCh38)
                                2:65079207 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:64852072:G:A
                                Gene:
                                LINC01800 (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.

                                rs1490053917 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:64850411 (GRCh38)
                                  2:65077545 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:64850410:C:A
                                  Gene:
                                  LINC01800 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000066/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1489992123 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->GGCAGCTGCTGGCGG [Show Flanks]
                                    Chromosome:
                                    2:64859445 (GRCh38)
                                    2:65086580 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:64859445:GGCGGGGCAGCTGCTGGCGG:GGCGGGGCAGCTGCTGGCGGGGCAGCTGCTGGCGG
                                    Gene:
                                    LINC01800 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GGCGGGGCAGCTGCTGGCGGGGCAGCTGCTGGCGG=0./0 (ALFA)
                                    GGCGGGGCAGCTGCT=0.000004/1 (TOPMED)
                                    GGCGGGGCAGCTGCT=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489794015 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:64849730 (GRCh38)
                                      2:65076864 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:64849729:A:G
                                      Gene:
                                      LINC01800 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1489531817 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        2:64860017 (GRCh38)
                                        2:65087152 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:64860017:A:AA
                                        Gene:
                                        LINC01800 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AA=0./0 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        A=0.000023/6 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489486972 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          2:64846782 (GRCh38)
                                          2:65073916 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:64846781:A:T
                                          Gene:
                                          LINC01800 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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