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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490837268 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:26043585 (GRCh38)
    6:26043813 (GRCh37)
    Canonical SPDI:
    NC_000006.12:26043584:T:C
    Gene:
    H2BC3 (Varview), H3C3 (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490700268 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      6:26043877 (GRCh38)
      6:26044105 (GRCh37)
      Canonical SPDI:
      NC_000006.12:26043876:A:C,NC_000006.12:26043876:A:G
      Gene:
      H2BC3 (Varview), H3C3 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490188117 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        6:26044180 (GRCh38)
        6:26044408 (GRCh37)
        Canonical SPDI:
        NC_000006.12:26044179:C:A
        Gene:
        H2BC3 (Varview), H3C3 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1489602963 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          6:26044000 (GRCh38)
          6:26044228 (GRCh37)
          Canonical SPDI:
          NC_000006.12:26043999:G:A,NC_000006.12:26043999:G:C,NC_000006.12:26043999:G:T
          Gene:
          H2BC3 (Varview), H3C3 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.00004/1 (TOMMO)
          HGVS:
          5.

          rs1489066145 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:26044797 (GRCh38)
            6:26045025 (GRCh37)
            Canonical SPDI:
            NC_000006.12:26044796:A:G
            Gene:
            H2BC3 (Varview), H3C3 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1486632426 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              6:26043994 (GRCh38)
              6:26044222 (GRCh37)
              Canonical SPDI:
              NC_000006.12:26043993:C:A
              Gene:
              H2BC3 (Varview), H3C3 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000007/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1484928128 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                6:26043879 (GRCh38)
                6:26044107 (GRCh37)
                Canonical SPDI:
                NC_000006.12:26043878:A:G
                Gene:
                H2BC3 (Varview), H3C3 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000318/5 (TOMMO)
                HGVS:
                8.

                rs1484332415 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  6:26044738 (GRCh38)
                  6:26044966 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:26044737:G:T
                  Gene:
                  H2BC3 (Varview), H3C3 (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:
                  9.

                  rs1484256355 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    6:26044087 (GRCh38)
                    6:26044315 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:26044086:T:A,NC_000006.12:26044086:T:C
                    Gene:
                    H2BC3 (Varview), H3C3 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1483450161 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      6:26044380 (GRCh38)
                      6:26044608 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:26044379:C:G,NC_000006.12:26044379:C:T
                      Gene:
                      H2BC3 (Varview), H3C3 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      G=0.000156/1 (1000Genomes)
                      HGVS:
                      11.

                      rs1481811623 has merged into rs779550523 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>-,T [Show Flanks]
                        Chromosome:
                        6:26046059 (GRCh38)
                        6:26046287 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:26046055:TTTTT:TTT,NC_000006.12:26046055:TTTTT:TTTT
                        Gene:
                        H3C3 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTT=0./0 (ALFA)
                        -=0.000007/1 (GnomAD)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1481673746 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          6:26046109 (GRCh38)
                          6:26046337 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:26046108:C:A
                          Gene:
                          H3C3 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1481422360 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:26043579 (GRCh38)
                            6:26043807 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:26043578:C:T
                            Gene:
                            H2BC3 (Varview), H3C3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1481234738 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              6:26043431 (GRCh38)
                              6:26043659 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:26043430:C:G
                              Gene:
                              H2BC3 (Varview), H3C3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1480573878 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                6:26044054 (GRCh38)
                                6:26044282 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:26044053:C:A
                                Gene:
                                H2BC3 (Varview), H3C3 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000014/2 (GnomAD_exomes)
                                A=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1479920631 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  6:26046005 (GRCh38)
                                  6:26046233 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:26046004:G:C
                                  Gene:
                                  H3C3 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_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.

                                  rs1479080551 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CACTC>- [Show Flanks]
                                    Chromosome:
                                    6:26044359 (GRCh38)
                                    6:26044587 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:26044358:CACTC:
                                    Gene:
                                    H2BC3 (Varview), H3C3 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0.000111/1 (ALFA)
                                    -=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1478719999 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:26043792 (GRCh38)
                                      6:26044020 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:26043791:A:G
                                      Gene:
                                      H2BC3 (Varview), H3C3 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1478100465 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->GCGCC [Show Flanks]
                                        Chromosome:
                                        6:26044140 (GRCh38)
                                        6:26044369 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:26044140::GCGCC
                                        Gene:
                                        H2BC3 (Varview), H3C3 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        GCGCC=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1478049495 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          6:26045560 (GRCh38)
                                          6:26045788 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:26045559:C:A,NC_000006.12:26045559:C:T
                                          Gene:
                                          H2BC3 (Varview), H3C3 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (GnomAD_exomes)
                                          HGVS:

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