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Items: 1 to 20 of 3744

1.

rs1491523869 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CG>- [Show Flanks]
    Chromosome:
    1:177364638 (GRCh38)
    1:177333774 (GRCh37)
    Canonical SPDI:
    NC_000001.11:177364637:CG:
    Gene:
    LINC01645 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000024/3 (GnomAD)
    HGVS:
    2.

    rs1491448571 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TT,TTTTTT [Show Flanks]
      Chromosome:
      1:177351380 (GRCh38)
      1:177320517 (GRCh37)
      Canonical SPDI:
      NC_000001.11:177351380::TT,NC_000001.11:177351380::TTTTTT
      Gene:
      LINC01645 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      TTTTTT=0./0 (ALFA)
      HGVS:
      3.

      rs1491116648 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AC>- [Show Flanks]
        Chromosome:
        1:177351380 (GRCh38)
        1:177320516 (GRCh37)
        Canonical SPDI:
        NC_000001.11:177351379:AC:
        Gene:
        LINC01645 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        HGVS:
        4.

        rs1491072217 has merged into rs3066174 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GT>-,GTGT [Show Flanks]
          Chromosome:
          1:177351760 (GRCh38)
          1:177320896 (GRCh37)
          Canonical SPDI:
          NC_000001.11:177351755:GTGTGT:GTGT,NC_000001.11:177351755:GTGTGT:GTGTGTGT
          Gene:
          LINC01645 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGTGTGT=0.3505/2491 (ALFA)
          -=0.0014/3 (1000Genomes)
          GT=0.3734/684 (Korea1K)
          GT=0.4426/1983 (Estonian)
          GT=0.4509/450 (GoNL)
          GT=0.4517/1741 (ALSPAC)
          GT=0.4583/275 (NorthernSweden)
          GT=0.4609/1709 (TWINSUK)
          HGVS:
          5.

          rs1491064703 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TA [Show Flanks]
            Chromosome:
            1:177351760 (GRCh38)
            1:177320897 (GRCh37)
            Canonical SPDI:
            NC_000001.11:177351760:TA:TATA
            Gene:
            LINC01645 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TATA=0./0 (ALFA)
            TA=0.000004/1 (TOPMED)
            TA=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1491012327 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              1:177352031 (GRCh38)
              1:177321167 (GRCh37)
              Canonical SPDI:
              NC_000001.11:177352029:TAT:T
              Gene:
              LINC01645 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000036/1 (GnomAD)
              HGVS:
              7.

              rs1490634056 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:177366678 (GRCh38)
                1:177335814 (GRCh37)
                Canonical SPDI:
                NC_000001.11:177366677:A:G
                Gene:
                LINC01645 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490477382 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  1:177365188 (GRCh38)
                  1:177334324 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:177365187:AA:A
                  Gene:
                  LINC01645 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AA=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  -=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490305079 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    1:177364427 (GRCh38)
                    1:177333563 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:177364426:A:C
                    Gene:
                    LINC01645 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000312/2 (1000Genomes)
                    HGVS:
                    10.

                    rs1490149548 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:177364341 (GRCh38)
                      1:177333477 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:177364340:A:G
                      Gene:
                      LINC01645 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490119358 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GTT>- [Show Flanks]
                        Chromosome:
                        1:177363254 (GRCh38)
                        1:177332390 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:177363248:TTGTTGTT:TTGTT
                        Gene:
                        LINC01645 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTGTT=0./0 (ALFA)
                        -=0.000029/4 (GnomAD)
                        -=0.000076/20 (TOPMED)
                        HGVS:
                        12.

                        rs1489956547 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:177363814 (GRCh38)
                          1:177332950 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:177363813:G:A
                          Gene:
                          LINC01645 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1489672732 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            1:177356480 (GRCh38)
                            1:177325616 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:177356479:C:A
                            Gene:
                            LINC01645 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1489441673 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              1:177355937 (GRCh38)
                              1:177325073 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:177355936:C:G
                              Gene:
                              LINC01645 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000023/6 (TOPMED)
                              C=0.5/1 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1489109243 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                1:177364380 (GRCh38)
                                1:177333516 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:177364379:G:C
                                Gene:
                                LINC01645 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489032418 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:177355369 (GRCh38)
                                  1:177324505 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:177355368:C:T
                                  Gene:
                                  LINC01645 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489008518 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:177355507 (GRCh38)
                                    1:177324643 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:177355506:T:C
                                    Gene:
                                    LINC01645 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488813098 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:177361668 (GRCh38)
                                      1:177330804 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:177361667:G:A
                                      Gene:
                                      LINC01645 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488739547 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CTGTGTGTGT>- [Show Flanks]
                                        Chromosome:
                                        1:177351712 (GRCh38)
                                        1:177320848 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:177351705:GTGTGTCTGTGTGTGT:GTGTGT
                                        Gene:
                                        LINC01645 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GTGTGT=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        -=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488694522 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:177353978 (GRCh38)
                                          1:177323114 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:177353977:A:G
                                          Gene:
                                          LINC01645 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:

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