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Items: 1 to 20 of 1262

1.

rs1490998538 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    21:42779166 (GRCh38)
    21:44199276 (GRCh37)
    Canonical SPDI:
    NC_000021.9:42779165:T:C
    Gene:
    LINC01668 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    2.

    rs1488855881 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      21:42778699 (GRCh38)
      21:44198809 (GRCh37)
      Canonical SPDI:
      NC_000021.9:42778698:C:T
      Gene:
      LINC01668 (Varview), LOC107985504 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000015/2 (GnomAD)
      T=0.000119/2 (TOMMO)
      HGVS:
      3.

      rs1488619067 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G,T [Show Flanks]
        Chromosome:
        21:42781749 (GRCh38)
        21:44201859 (GRCh37)
        Canonical SPDI:
        NC_000021.9:42781748:A:C,NC_000021.9:42781748:A:G,NC_000021.9:42781748:A:T
        Gene:
        LINC01668 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        A=0./0 (SGDP_PRJ)
        C=0.000009/1 (GnomAD)
        HGVS:
        4.

        rs1488001638 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          21:42780876 (GRCh38)
          21:44200986 (GRCh37)
          Canonical SPDI:
          NC_000021.9:42780875:T:C
          Gene:
          LINC01668 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1487943660 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            21:42778708 (GRCh38)
            21:44198818 (GRCh37)
            Canonical SPDI:
            NC_000021.9:42778707:C:A
            Gene:
            LINC01668 (Varview), LOC107985504 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000008/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1487724945 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              21:42780894 (GRCh38)
              21:44201004 (GRCh37)
              Canonical SPDI:
              NC_000021.9:42780893:G:A
              Gene:
              LINC01668 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1486982120 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                21:42781303 (GRCh38)
                21:44201413 (GRCh37)
                Canonical SPDI:
                NC_000021.9:42781302:T:C
                Gene:
                LINC01668 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1486542090 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  21:42778029 (GRCh38)
                  21:44198139 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:42778028:G:C
                  Gene:
                  LINC01668 (Varview), LOC107985504 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000684/2 (KOREAN)
                  HGVS:
                  9.

                  rs1486137252 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    21:42777503 (GRCh38)
                    21:44197613 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:42777502:G:A
                    Gene:
                    LINC01668 (Varview), LOC107985504 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1485594568 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      21:42777350 (GRCh38)
                      21:44197460 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:42777349:A:C,NC_000021.9:42777349:A:G
                      Gene:
                      LINC01668 (Varview), LOC107985504 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1484110646 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        21:42778890 (GRCh38)
                        21:44199000 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:42778889:T:C
                        Gene:
                        LINC01668 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000084/1 (ALFA)
                        C=0.000087/23 (TOPMED)
                        C=0.000123/17 (GnomAD)
                        HGVS:
                        12.

                        rs1483101372 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          21:42778891 (GRCh38)
                          21:44199001 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:42778890:T:C
                          Gene:
                          LINC01668 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000019/5 (TOPMED)
                          HGVS:
                          13.

                          rs1483009220 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            21:42777596 (GRCh38)
                            21:44197706 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:42777595:G:A,NC_000021.9:42777595:G:T
                            Gene:
                            LINC01668 (Varview), LOC107985504 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1482027997 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              21:42777928 (GRCh38)
                              21:44198038 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:42777927:A:C,NC_000021.9:42777927:A:G
                              Gene:
                              LINC01668 (Varview), LOC107985504 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              C=0.00006/1 (TOMMO)
                              HGVS:
                              15.

                              rs1480667355 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AC>- [Show Flanks]
                                Chromosome:
                                21:42779516 (GRCh38)
                                21:44199626 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:42779513:ACAC:AC
                                Gene:
                                LINC01668 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                ACAC=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1479555999 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  21:42779192 (GRCh38)
                                  21:44199302 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:42779191:C:G,NC_000021.9:42779191:C:T
                                  Gene:
                                  LINC01668 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1478995193 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    21:42781444 (GRCh38)
                                    21:44201554 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:42781443:A:C,NC_000021.9:42781443:A:G
                                    Gene:
                                    LINC01668 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    C=0.000035/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1478370372 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      G>A
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1478316206 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        21:42779174 (GRCh38)
                                        21:44199284 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:42779173:T:C
                                        Gene:
                                        LINC01668 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477677075 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GA>- [Show Flanks]
                                          Chromosome:
                                          21:42777367 (GRCh38)
                                          21:44197477 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:42777365:AGA:A
                                          Gene:
                                          LINC01668 (Varview), LOC107985504 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          -=0.000007/1 (GnomAD)
                                          HGVS:

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