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Items: 1 to 20 of 839

1.

rs1490743922 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    1:149889870 (GRCh38)
    1:149861420 (GRCh37)
    Canonical SPDI:
    NC_000001.11:149889869:G:T
    Gene:
    H2AC21 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490578938 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->GCGG [Show Flanks]
      Chromosome:
      1:149889455 (GRCh38)
      1:149861006 (GRCh37)
      Canonical SPDI:
      NC_000001.11:149889455::GCGG
      Gene:
      H2AC21 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GCGG=0./0 (ALFA)
      GCGG=0.000004/1 (TOPMED)
      GCGG=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1489756554 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:149888124 (GRCh38)
        1:149859674 (GRCh37)
        Canonical SPDI:
        NC_000001.11:149888123:G:C
        Gene:
        H2BC21 (Varview), H2AC21 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000026/7 (TOPMED)
        C=0.000043/6 (GnomAD)
        HGVS:
        4.

        rs1486591670 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          1:149887138 (GRCh38)
          1:149858688 (GRCh37)
          Canonical SPDI:
          NC_000001.11:149887137:T:C,NC_000001.11:149887137:T:G
          Gene:
          H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
          Functional Consequence:
          500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000043/1 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          G=0.001652/3 (Korea1K)
          HGVS:
          5.

          rs1485833590 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:149887461 (GRCh38)
            1:149859011 (GRCh37)
            Canonical SPDI:
            NC_000001.11:149887460:T:C
            Gene:
            H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
            Functional Consequence:
            500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000015/4 (TOPMED)
            C=0.000029/4 (GnomAD)
            HGVS:
            6.

            rs1485684161 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:149887506 (GRCh38)
              1:149859056 (GRCh37)
              Canonical SPDI:
              NC_000001.11:149887505:T:C
              Gene:
              H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
              Functional Consequence:
              500B_downstream_variant,upstream_transcript_variant,3_prime_UTR_variant,downstream_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:
              7.

              rs1485615235 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:149887454 (GRCh38)
                1:149859004 (GRCh37)
                Canonical SPDI:
                NC_000001.11:149887453:C:T
                Gene:
                H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
                Functional Consequence:
                500B_downstream_variant,upstream_transcript_variant,downstream_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:
                8.

                rs1485145418 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:149888283 (GRCh38)
                  1:149859833 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:149888282:C:T
                  Gene:
                  H2BC21 (Varview), H2AC21 (Varview)
                  Functional Consequence:
                  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:
                  9.

                  rs1484814693 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:149887850 (GRCh38)
                    1:149859400 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:149887849:C:T
                    Gene:
                    H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1484163288 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      1:149888639 (GRCh38)
                      1:149860189 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:149888638:G:A,NC_000001.11:149888638:G:C
                      Gene:
                      H2BC21 (Varview), H2AC21 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      C=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1483433259 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        1:149889259 (GRCh38)
                        1:149860809 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:149889258:C:G
                        Gene:
                        H2AC21 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000029/4 (GnomAD)
                        G=0.000038/10 (TOPMED)
                        HGVS:
                        12.

                        rs1483361218 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:149888370 (GRCh38)
                          1:149859920 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:149888369:G:C
                          Gene:
                          H2BC21 (Varview), H2AC21 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1480784136 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:149889497 (GRCh38)
                            1:149861047 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:149889496:C:T
                            Gene:
                            H2AC21 (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.

                            rs1479929630 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CTTTG [Show Flanks]
                              Chromosome:
                              1:149888255 (GRCh38)
                              1:149859806 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:149888255:TTTGCTTTGCTTTG:TTTGCTTTGCTTTGCTTTG
                              Gene:
                              H2BC21 (Varview), H2AC21 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTGCTTTGCTTTGCTTTG=0./0 (ALFA)
                              TTTGC=0.000014/2 (GnomAD)
                              TTTGC=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1476892574 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:149888611 (GRCh38)
                                1:149860161 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:149888610:A:G
                                Gene:
                                H2BC21 (Varview), H2AC21 (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=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1476021273 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  1:149889861 (GRCh38)
                                  1:149861411 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:149889860:G:
                                  Gene:
                                  H2AC21 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  -=0.001239/21 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1475249780 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ATTG>- [Show Flanks]
                                    Chromosome:
                                    1:149888029 (GRCh38)
                                    1:149859579 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:149888025:TTGATTG:TTG
                                    Gene:
                                    H2BC21 (Varview), H2AC21 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TTG=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1474569326 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:149888349 (GRCh38)
                                      1:149859899 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:149888348:G:A
                                      Gene:
                                      H2BC21 (Varview), H2AC21 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1473589357 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        1:149888683 (GRCh38)
                                        1:149860233 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:149888682:C:A,NC_000001.11:149888682:C:T
                                        Gene:
                                        H2AC21 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1473393182 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:149887548 (GRCh38)
                                          1:149859098 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:149887547:A:G
                                          Gene:
                                          H2AC20 (Varview), H2BC21 (Varview), H2AC21 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000087/2 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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