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Items: 1 to 20 of 1185

1.

rs1490852904 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:53626734 (GRCh38)
    6:53491532 (GRCh37)
    Canonical SPDI:
    NC_000006.12:53626733:T:C
    Gene:
    LINC01564 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1489501707 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:53628030 (GRCh38)
      6:53492828 (GRCh37)
      Canonical SPDI:
      NC_000006.12:53628029:A:G
      Gene:
      LINC01564 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000224/1 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000223/1 (Estonian)
      HGVS:
      3.

      rs1489102667 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        6:53631396 (GRCh38)
        6:53496194 (GRCh37)
        Canonical SPDI:
        NC_000006.12:53631395:A:T
        Gene:
        LINC01564 (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.000084/1 (ALFA)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1488777262 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          6:53627272 (GRCh38)
          6:53492070 (GRCh37)
          Canonical SPDI:
          NC_000006.12:53627271:A:T
          Gene:
          LINC01564 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1488727273 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:53629584 (GRCh38)
            6:53494382 (GRCh37)
            Canonical SPDI:
            NC_000006.12:53629583:A:G
            Gene:
            LINC01564 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1487214593 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              6:53629137 (GRCh38)
              6:53493935 (GRCh37)
              Canonical SPDI:
              NC_000006.12:53629136:C:G,NC_000006.12:53629136:C:T
              Gene:
              LINC01564 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000054/1 (ALFA)
              T=0.000014/2 (GnomAD)
              T=0.000015/4 (TOPMED)
              T=0.000223/1 (Estonian)
              HGVS:
              7.

              rs1486991996 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                6:53628240 (GRCh38)
                6:53493038 (GRCh37)
                Canonical SPDI:
                NC_000006.12:53628239:G:A,NC_000006.12:53628239:G:T
                Gene:
                LINC01564 (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:
                8.

                rs1486561523 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  6:53631333 (GRCh38)
                  6:53496131 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:53631332:G:C,NC_000006.12:53631332:G:T
                  Gene:
                  LINC01564 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1486236344 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:53630210 (GRCh38)
                    6:53495008 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:53630209:G:A
                    Gene:
                    LINC01564 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485302228 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      6:53627790 (GRCh38)
                      6:53492588 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:53627789:G:
                      Gene:
                      LINC01564 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1484647696 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        6:53627181 (GRCh38)
                        6:53491979 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:53627180:G:T
                        Gene:
                        LINC01564 (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:
                        12.

                        rs1483985446 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:53628147 (GRCh38)
                          6:53492945 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:53628146:T:C
                          Gene:
                          LINC01564 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.000019/5 (TOPMED)
                          HGVS:
                          13.

                          rs1481495280 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:53626886 (GRCh38)
                            6:53491684 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:53626885:C:T
                            Gene:
                            LINC01564 (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:
                            14.

                            rs1480087285 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              6:53626788 (GRCh38)
                              6:53491586 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:53626787:T:C
                              Gene:
                              LINC01564 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1480054909 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TACC>- [Show Flanks]
                                Chromosome:
                                6:53629926 (GRCh38)
                                6:53494724 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:53629923:CCTACC:CC
                                Gene:
                                LINC01564 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                CC=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1479915352 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  6:53626901 (GRCh38)
                                  6:53491699 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:53626900:C:G
                                  Gene:
                                  LINC01564 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000106/2 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1479861794 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    6:53627385 (GRCh38)
                                    6:53492183 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:53627384:A:
                                    Gene:
                                    LINC01564 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1478499117 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,T [Show Flanks]
                                      Chromosome:
                                      6:53630490 (GRCh38)
                                      6:53495288 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:53630489:A:C,NC_000006.12:53630489:A:T
                                      Gene:
                                      LINC01564 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      C=0./0 (GnomAD)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1478191079 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:53627843 (GRCh38)
                                        6:53492641 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:53627842:A:G
                                        Gene:
                                        LINC01564 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0./0 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        G=0.000468/3 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1478046134 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          6:53627497 (GRCh38)
                                          6:53492295 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:53627496:C:A
                                          Gene:
                                          LINC01564 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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