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Items: 1 to 20 of 1000

1.

rs1491193639 has merged into rs145357823 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
    Chromosome:
    13:77991728 (GRCh38)
    13:78565863 (GRCh37)
    Canonical SPDI:
    NC_000013.11:77991714:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000013.11:77991714:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000013.11:77991714:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000013.11:77991714:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000013.11:77991714:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
    Gene:
    LINC01069 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGTGTGTGTGTGT=0.00021/3 (ALFA)
    TG=0.03557/9 (1000Genomes)
    TG=0.15/6 (GENOME_DK)
    HGVS:
    2.

    rs1490832578 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      13:77994560 (GRCh38)
      13:78568695 (GRCh37)
      Canonical SPDI:
      NC_000013.11:77994559:T:C
      Gene:
      LINC01069 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490828103 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        13:77996748 (GRCh38)
        13:78570883 (GRCh37)
        Canonical SPDI:
        NC_000013.11:77996747:A:G,NC_000013.11:77996747:A:T
        Gene:
        LINC01069 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000015/4 (TOPMED)
        HGVS:
        4.

        rs1490812510 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          13:77994936 (GRCh38)
          13:78569071 (GRCh37)
          Canonical SPDI:
          NC_000013.11:77994935:T:G
          Gene:
          LINC01069 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000008/2 (TOPMED)
          G=0.00001/1 (GnomAD)
          G=0.000684/2 (KOREAN)
          HGVS:
          5.

          rs1490415912 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            13:77986296 (GRCh38)
            13:78560431 (GRCh37)
            Canonical SPDI:
            NC_000013.11:77986295:A:C
            Gene:
            LINC01069 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000029/4 (GnomAD)
            C=0.000038/10 (TOPMED)
            HGVS:
            6.

            rs1490066714 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              13:77980041 (GRCh38)
              13:78554176 (GRCh37)
              Canonical SPDI:
              NC_000013.11:77980040:A:G
              Gene:
              LINC01069 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000014/2 (GnomAD)
              G=0.000015/4 (TOPMED)
              HGVS:
              7.

              rs1490040151 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                13:77988228 (GRCh38)
                13:78562363 (GRCh37)
                Canonical SPDI:
                NC_000013.11:77988227:A:C
                Gene:
                LINC01069 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489903172 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  13:77981288 (GRCh38)
                  13:78555423 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:77981287:A:G
                  Gene:
                  LINC01069 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489902655 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    13:77995615 (GRCh38)
                    13:78569750 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:77995614:A:C
                    Gene:
                    LINC01069 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489835459 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      13:77996418 (GRCh38)
                      13:78570553 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:77996417:G:A
                      Gene:
                      LINC01069 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1489791478 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        13:77984870 (GRCh38)
                        13:78559005 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:77984869:G:T
                        Gene:
                        LINC01069 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000019/5 (TOPMED)
                        T=0.00046/8 (TOMMO)
                        T=0.000684/2 (KOREAN)
                        HGVS:
                        12.

                        rs1489417894 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:77993583 (GRCh38)
                          13:78567718 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:77993582:A:G
                          Gene:
                          LINC01069 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1489286152 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:77996118 (GRCh38)
                            13:78570253 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:77996117:G:A
                            Gene:
                            LINC01069 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_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:
                            14.

                            rs1488976674 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              13:77989358 (GRCh38)
                              13:78563493 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:77989357:CC:C
                              Gene:
                              LINC01069 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CC=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1488373302 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                13:77996034 (GRCh38)
                                13:78570170 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:77996034:A:AA
                                Gene:
                                LINC01069 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AA=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1488046818 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  13:77983988 (GRCh38)
                                  13:78558123 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:77983987:T:C
                                  Gene:
                                  LINC01069 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487953612 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    13:77981087 (GRCh38)
                                    13:78555222 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:77981086:A:G
                                    Gene:
                                    LINC01069 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000546/1 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1487841515 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      13:77982337 (GRCh38)
                                      13:78556472 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:77982336:C:A
                                      Gene:
                                      LINC01069 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000015/4 (TOPMED)
                                      A=0.000031/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487015730 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        13:77989217 (GRCh38)
                                        13:78563352 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:77989216:T:A
                                        Gene:
                                        LINC01069 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486927429 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          13:77991152 (GRCh38)
                                          13:78565287 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:77991151:G:C
                                          Gene:
                                          LINC01069 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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