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Items: 1 to 20 of 844

1.

rs1489994547 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    20:12950146 (GRCh38)
    20:12930794 (GRCh37)
    Canonical SPDI:
    NC_000020.11:12950145:C:G
    Gene:
    LINC01723 (Varview), LINC01722 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489794141 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      20:12950491 (GRCh38)
      20:12931139 (GRCh37)
      Canonical SPDI:
      NC_000020.11:12950490:G:A
      Gene:
      LINC01723 (Varview), LINC01722 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489539916 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        20:12951108 (GRCh38)
        20:12931756 (GRCh37)
        Canonical SPDI:
        NC_000020.11:12951107:A:C
        Gene:
        LINC01723 (Varview), LINC01722 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1488805203 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          20:12950749 (GRCh38)
          20:12931397 (GRCh37)
          Canonical SPDI:
          NC_000020.11:12950748:C:T
          Gene:
          LINC01723 (Varview), LINC01722 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1488066452 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            20:12951134 (GRCh38)
            20:12931782 (GRCh37)
            Canonical SPDI:
            NC_000020.11:12951133:A:G
            Gene:
            LINC01723 (Varview), LINC01722 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000008/2 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1487833637 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:12949644 (GRCh38)
              20:12930292 (GRCh37)
              Canonical SPDI:
              NC_000020.11:12949643:G:A
              Gene:
              LINC01723 (Varview), LINC01722 (Varview)
              Functional Consequence:
              intron_variant,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.

              rs1487716125 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                20:12950757 (GRCh38)
                20:12931405 (GRCh37)
                Canonical SPDI:
                NC_000020.11:12950756:C:G,NC_000020.11:12950756:C:T
                Gene:
                LINC01723 (Varview), LINC01722 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1484678661 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  20:12949579 (GRCh38)
                  20:12930227 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:12949578:A:G
                  Gene:
                  LINC01723 (Varview), LINC01722 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_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.

                  rs1483629435 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:12951005 (GRCh38)
                    20:12931653 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:12951004:C:T
                    Gene:
                    LINC01723 (Varview), LINC01722 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1482785465 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      20:12949367 (GRCh38)
                      20:12930015 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:12949366:T:C
                      Gene:
                      LINC01723 (Varview), LINC01722 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1482736164 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        20:12948368 (GRCh38)
                        20:12929016 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:12948367:T:C
                        Gene:
                        LINC01723 (Varview), LINC01722 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1481615836 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          20:12949762 (GRCh38)
                          20:12930410 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:12949761:C:T
                          Gene:
                          LINC01723 (Varview), LINC01722 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1481499969 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            20:12950873 (GRCh38)
                            20:12931521 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:12950872:T:C
                            Gene:
                            LINC01723 (Varview), LINC01722 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1480553023 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              T>- [Show Flanks]
                              Chromosome:
                              20:12948809 (GRCh38)
                              20:12929457 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:12948808:TT:T
                              Gene:
                              LINC01723 (Varview), LINC01722 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1479839003 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                20:12950738 (GRCh38)
                                20:12931386 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:12950737:A:C
                                Gene:
                                LINC01723 (Varview), LINC01722 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1479511958 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:12950281 (GRCh38)
                                  20:12930929 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:12950280:C:T
                                  Gene:
                                  LINC01723 (Varview), LINC01722 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1477978653 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    20:12952032 (GRCh38)
                                    20:12932680 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:12952031:T:A,NC_000020.11:12952031:T:C
                                    Gene:
                                    LINC01723 (Varview), LINC01722 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1477927378 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      20:12949647 (GRCh38)
                                      20:12930295 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:12949646:T:C
                                      Gene:
                                      LINC01723 (Varview), LINC01722 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000447/2 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000446/2 (Estonian)
                                      HGVS:
                                      19.

                                      rs1475694904 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        20:12948861 (GRCh38)
                                        20:12929509 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:12948860:A:C
                                        Gene:
                                        LINC01723 (Varview), LINC01722 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1474977381 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          20:12950124 (GRCh38)
                                          20:12930772 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:12950123:A:T
                                          Gene:
                                          LINC01723 (Varview), LINC01722 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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