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Links from Nucleotide

Items: 1 to 20 of 102

1.

rs1487879593 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    13:30541681 (GRCh38)
    13:31115818 (GRCh37)
    Canonical SPDI:
    NC_000013.11:30541680:T:C,NC_000013.11:30541680:T:G
    Gene:
    HMGB1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1480065948 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      13:30541469 (GRCh38)
      13:31115606 (GRCh37)
      Canonical SPDI:
      NC_000013.11:30541468:A:C
      Gene:
      HMGB1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1469966959 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        13:30541930 (GRCh38)
        13:31116067 (GRCh37)
        Canonical SPDI:
        NC_000013.11:30541929:G:T
        Gene:
        HMGB1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        4.

        rs1469146565 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          13:30541593 (GRCh38)
          13:31115730 (GRCh37)
          Canonical SPDI:
          NC_000013.11:30541592:T:C
          Gene:
          HMGB1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1458601248 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            13:30541837 (GRCh38)
            13:31115974 (GRCh37)
            Canonical SPDI:
            NC_000013.11:30541836:C:T
            Gene:
            HMGB1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1445825678 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              13:30541739 (GRCh38)
              13:31115876 (GRCh37)
              Canonical SPDI:
              NC_000013.11:30541738:C:T
              Gene:
              HMGB1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000162/3 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000008/2 (TOPMED)
              T=0.00006/1 (TOMMO)
              T=0.00067/3 (Estonian)
              HGVS:
              7.

              rs1442715706 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                13:30541881 (GRCh38)
                13:31116018 (GRCh37)
                Canonical SPDI:
                NC_000013.11:30541880:T:C
                Gene:
                HMGB1 (Varview)
                Functional Consequence:
                intron_variant,genic_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:
                8.

                rs1442388574 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  13:30541904 (GRCh38)
                  13:31116041 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:30541903:T:C
                  Gene:
                  HMGB1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000019/5 (TOPMED)
                  HGVS:
                  9.

                  rs1437725438 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    13:30541818 (GRCh38)
                    13:31115955 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:30541817:A:G
                    Gene:
                    HMGB1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1432048968 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      13:30541473 (GRCh38)
                      13:31115610 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:30541472:T:C
                      Gene:
                      HMGB1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000015/2 (GnomAD)
                      HGVS:
                      11.

                      rs1427056390 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        13:30541595 (GRCh38)
                        13:31115733 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:30541595:CCCC:CCCCC
                        Gene:
                        HMGB1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CCCCC=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1424764368 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G,T [Show Flanks]
                          Chromosome:
                          13:30541512 (GRCh38)
                          13:31115649 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:30541511:A:G,NC_000013.11:30541511:A:T
                          Gene:
                          HMGB1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000054/1 (ALFA)
                          T=0.000004/1 (TOPMED)
                          G=0.000223/1 (Estonian)
                          HGVS:
                          13.

                          rs1418801951 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            13:30541768 (GRCh38)
                            13:31115905 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:30541767:A:G
                            Gene:
                            HMGB1 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1410455331 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              13:30541764 (GRCh38)
                              13:31115901 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:30541763:C:G
                              Gene:
                              HMGB1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1403643301 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                13:30541740 (GRCh38)
                                13:31115877 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:30541739:G:A
                                Gene:
                                HMGB1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                A=0.00463/1 (Vietnamese)
                                HGVS:
                                16.

                                rs1403262868 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  13:30541571 (GRCh38)
                                  13:31115708 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:30541570:A:C
                                  Gene:
                                  HMGB1 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,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.

                                  rs1400643735 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    13:30541547 (GRCh38)
                                    13:31115684 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:30541546:G:C
                                    Gene:
                                    HMGB1 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,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:
                                    18.

                                    rs1398112806 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:30541869 (GRCh38)
                                      13:31116006 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:30541868:C:T
                                      Gene:
                                      HMGB1 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1387368147 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:30541599 (GRCh38)
                                        13:31115736 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:30541598:C:T
                                        Gene:
                                        HMGB1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1385424052 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          13:30541780 (GRCh38)
                                          13:31115917 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:30541779:G:A
                                          Gene:
                                          HMGB1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000019/5 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:

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