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Items: 1 to 20 of 1107

1.

rs1490314969 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    6:26019838 (GRCh38)
    6:26020066 (GRCh37)
    Canonical SPDI:
    NC_000006.12:26019837:A:T
    Gene:
    H3C1 (Varview), H4C1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1489555368 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:26020892 (GRCh38)
      6:26021120 (GRCh37)
      Canonical SPDI:
      NC_000006.12:26020891:A:G
      Gene:
      H3C1 (Varview), H4C1 (Varview)
      Functional Consequence:
      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1487937320 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        6:26018513 (GRCh38)
        6:26018741 (GRCh37)
        Canonical SPDI:
        NC_000006.12:26018512:G:T
        Gene:
        H1-1 (Varview), H3C1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1487092856 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:26018975 (GRCh38)
          6:26019203 (GRCh37)
          Canonical SPDI:
          NC_000006.12:26018974:C:T
          Gene:
          H1-1 (Varview), H3C1 (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:
          5.

          rs1485236341 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            6:26021268 (GRCh38)
            6:26021496 (GRCh37)
            Canonical SPDI:
            NC_000006.12:26021267:G:A,NC_000006.12:26021267:G:C
            Gene:
            H3C1 (Varview), H4C1 (Varview)
            Functional Consequence:
            downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1485122901 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:26019969 (GRCh38)
              6:26020197 (GRCh37)
              Canonical SPDI:
              NC_000006.12:26019968:G:A
              Gene:
              H3C1 (Varview), H4C1 (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:
              7.

              rs1481346186 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:26021348 (GRCh38)
                6:26021576 (GRCh37)
                Canonical SPDI:
                NC_000006.12:26021347:G:A
                Gene:
                H3C1 (Varview), H4C1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.00011/29 (TOPMED)
                A=0.000128/18 (GnomAD)
                HGVS:
                8.

                rs1480788370 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:26018569 (GRCh38)
                  6:26018797 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:26018568:A:G
                  Gene:
                  H1-1 (Varview), H3C1 (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=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1480740687 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:26018752 (GRCh38)
                    6:26018980 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:26018751:C:T
                    Gene:
                    H1-1 (Varview), H3C1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1480405621 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      6:26019954 (GRCh38)
                      6:26020182 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:26019953:G:T
                      Gene:
                      H3C1 (Varview), H4C1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1479894653 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        6:26018933 (GRCh38)
                        6:26019161 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:26018932:G:C
                        Gene:
                        H1-1 (Varview), H3C1 (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=0.000045/12 (TOPMED)
                        HGVS:
                        12.

                        rs1479155924 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTTT>- [Show Flanks]
                          Chromosome:
                          6:26019978 (GRCh38)
                          6:26020206 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:26019976:TCTTT:T
                          Gene:
                          H3C1 (Varview), H4C1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000084/1 (ALFA)
                          -=0.000016/2 (GnomAD)
                          HGVS:
                          13.

                          rs1478285458 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            6:26020324 (GRCh38)
                            6:26020552 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:26020323:G:A,NC_000006.12:26020323:G:T
                            Gene:
                            H3C1 (Varview), H4C1 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1478285371 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              6:26020864 (GRCh38)
                              6:26021092 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:26020863:CC:C
                              Gene:
                              H3C1 (Varview), H4C1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1477150918 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                6:26019420 (GRCh38)
                                6:26019648 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:26019419:A:C
                                Gene:
                                H1-1 (Varview), H3C1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1476588522 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  6:26019056 (GRCh38)
                                  6:26019284 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:26019055:G:C
                                  Gene:
                                  H1-1 (Varview), H3C1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1475028836 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    6:26019544 (GRCh38)
                                    6:26019772 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:26019543:T:G
                                    Gene:
                                    H1-1 (Varview), H3C1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1474801905 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:26021332 (GRCh38)
                                      6:26021560 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:26021331:T:C
                                      Gene:
                                      H3C1 (Varview), H4C1 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1472309199 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        6:26020509 (GRCh38)
                                        6:26020737 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:26020508:C:G
                                        Gene:
                                        H3C1 (Varview), H4C1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.00007/1 (ALFA)
                                        HGVS:
                                        20.

                                        rs1469824645 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          6:26019296 (GRCh38)
                                          6:26019524 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:26019295:A:C
                                          Gene:
                                          H1-1 (Varview), H3C1 (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=0.000008/2 (TOPMED)
                                          HGVS:

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