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Items: 1 to 20 of 883

1.

rs1491134565 has merged into rs61363384 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
    Chromosome:
    22:45604931 (GRCh38)
    22:46000811 (GRCh37)
    Canonical SPDI:
    NC_000022.11:45604919:CACACACACACACACACACAC:CACACACACAC,NC_000022.11:45604919:CACACACACACACACACACAC:CACACACACACACAC,NC_000022.11:45604919:CACACACACACACACACACAC:CACACACACACACACAC,NC_000022.11:45604919:CACACACACACACACACACAC:CACACACACACACACACAC,NC_000022.11:45604919:CACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000022.11:45604919:CACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000022.11:45604919:CACACACACACACACACACAC:CACACACACACACACACACACACACAC
    Gene:
    LINC01589 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACACACACACACAC=0./0 (ALFA)
    CA=0.05252/263 (1000Genomes)
    HGVS:
    2.

    rs1490811614 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GGTTCACTCATTCATT>- [Show Flanks]
      Chromosome:
      22:45606461 (GRCh38)
      22:46002341 (GRCh37)
      Canonical SPDI:
      NC_000022.11:45606451:TCATTCATTGGTTCACTCATTCATT:TCATTCATT
      Gene:
      LINC01589 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TCATTCATT=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      -=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1490760420 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        22:45605742 (GRCh38)
        22:46001622 (GRCh37)
        Canonical SPDI:
        NC_000022.11:45605741:C:G,NC_000022.11:45605741:C:T
        Gene:
        LINC01589 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490648889 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          22:45606092 (GRCh38)
          22:46001972 (GRCh37)
          Canonical SPDI:
          NC_000022.11:45606091:C:T
          Gene:
          LINC01589 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_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:
          5.

          rs1488921333 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            22:45605094 (GRCh38)
            22:46000974 (GRCh37)
            Canonical SPDI:
            NC_000022.11:45605093:G:A
            Gene:
            LINC01589 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000069/1 (ALFA)
            A=0.000015/4 (TOPMED)
            A=0.000029/4 (GnomAD)
            HGVS:
            6.

            rs1488823820 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:45606985 (GRCh38)
              22:46002865 (GRCh37)
              Canonical SPDI:
              NC_000022.11:45606984:C:T
              Gene:
              LINC01589 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_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:
              7.

              rs1488231678 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:45606891 (GRCh38)
                22:46002771 (GRCh37)
                Canonical SPDI:
                NC_000022.11:45606890:G:A
                Gene:
                LINC01589 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000011/3 (TOPMED)
                A=0.000156/1 (1000Genomes)
                HGVS:
                8.

                rs1487527573 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  22:45604746 (GRCh38)
                  22:46000626 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:45604745:T:A
                  Gene:
                  LINC01589 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  HGVS:
                  9.

                  rs1487420965 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    22:45605850 (GRCh38)
                    22:46001730 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:45605849:G:A
                    Gene:
                    LINC01589 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_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:
                    10.

                    rs1484698200 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:45605186 (GRCh38)
                      22:46001066 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:45605185:G:A
                      Gene:
                      LINC01589 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1483236312 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        22:45605872 (GRCh38)
                        22:46001752 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:45605871:G:A,NC_000022.11:45605871:G:C,NC_000022.11:45605871:G:T
                        Gene:
                        LINC01589 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.00005/1 (ALFA)
                        T=0.00006/1 (TOMMO)
                        C=0.00022/1 (Estonian)
                        G=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1481555089 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          22:45605823 (GRCh38)
                          22:46001703 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:45605822:G:A,NC_000022.11:45605822:G:T
                          Gene:
                          LINC01589 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.00004/1 (TOMMO)
                          HGVS:
                          13.

                          rs1481329539 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:45606536 (GRCh38)
                            22:46002416 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:45606535:C:T
                            Gene:
                            LINC01589 (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:
                            14.

                            rs1480907626 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              22:45604920 (GRCh38)
                              22:46000800 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:45604919:C:A,NC_000022.11:45604919:C:T
                              Gene:
                              LINC01589 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              A=0.000142/2 (TOMMO)
                              A=0.002396/7 (KOREAN)
                              C=0.5/1 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1479945088 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                22:45605927 (GRCh38)
                                22:46001807 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:45605926:A:G
                                Gene:
                                LINC01589 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1479921134 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  22:45605369 (GRCh38)
                                  22:46001249 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:45605368:A:T
                                  Gene:
                                  LINC01589 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1479582983 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    22:45604976 (GRCh38)
                                    22:46000856 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:45604975:T:C
                                    Gene:
                                    LINC01589 (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)
                                    HGVS:
                                    18.

                                    rs1479036989 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      22:45603973 (GRCh38)
                                      22:45999853 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:45603972:C:G
                                      Gene:
                                      LINC01589 (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=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1478260504 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:45606522 (GRCh38)
                                        22:46002402 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:45606521:C:T
                                        Gene:
                                        LINC01589 (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:
                                        20.

                                        rs1478034218 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          22:45607437 (GRCh38)
                                          22:46003317 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:45607436:G:T
                                          Gene:
                                          LINC01589 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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