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Items: 1 to 20 of 162

1.

rs1490615200 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:26217000 (GRCh38)
    6:26217228 (GRCh37)
    Canonical SPDI:
    NC_000006.12:26216999:G:A
    Gene:
    H2AC8 (Varview), H2BC8 (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000224/1 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000223/1 (Estonian)
    HGVS:
    2.

    rs1486970734 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:26217037 (GRCh38)
      6:26217265 (GRCh37)
      Canonical SPDI:
      NC_000006.12:26217036:G:A
      Gene:
      H2AC8 (Varview), H2BC8 (Varview)
      Functional Consequence:
      coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1477519801 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:26217096 (GRCh38)
        6:26217324 (GRCh37)
        Canonical SPDI:
        NC_000006.12:26217095:C:T
        Gene:
        H2AC8 (Varview), H2BC8 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1475649865 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          6:26217277 (GRCh38)
          6:26217505 (GRCh37)
          Canonical SPDI:
          NC_000006.12:26217276:G:T
          Gene:
          H2AC8 (Varview), H2BC8 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1471222617 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:26217024 (GRCh38)
            6:26217252 (GRCh37)
            Canonical SPDI:
            NC_000006.12:26217023:C:T
            Gene:
            H2AC8 (Varview), H2BC8 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000066/1 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1467901935 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:26216981 (GRCh38)
              6:26217209 (GRCh37)
              Canonical SPDI:
              NC_000006.12:26216980:G:A
              Gene:
              H2AC8 (Varview), H2BC8 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1462202522 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                6:26217232 (GRCh38)
                6:26217460 (GRCh37)
                Canonical SPDI:
                NC_000006.12:26217231:A:G
                Gene:
                H2AC8 (Varview), H2BC8 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.0001/1 (ALFA)
                HGVS:
                8.

                rs1449811304 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:26217344 (GRCh38)
                  6:26217572 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:26217343:C:T
                  Gene:
                  H2AC8 (Varview), H2BC8 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1449043607 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:26217279 (GRCh38)
                    6:26217507 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:26217278:C:T
                    Gene:
                    H2AC8 (Varview), H2BC8 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1449000650 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      6:26217366 (GRCh38)
                      6:26217594 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:26217365:G:A,NC_000006.12:26217365:G:T
                      Gene:
                      H2AC8 (Varview), H2BC8 (Varview)
                      Functional Consequence:
                      synonymous_variant,stop_lost,upstream_transcript_variant,2KB_upstream_variant,terminator_codon_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1445364916 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:26217334 (GRCh38)
                        6:26217562 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:26217333:G:A
                        Gene:
                        H2AC8 (Varview), H2BC8 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1442130566 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          6:26217182 (GRCh38)
                          6:26217410 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:26217181:G:C,NC_000006.12:26217181:G:T
                          Gene:
                          H2AC8 (Varview), H2BC8 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1440680789 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            6:26217266 (GRCh38)
                            6:26217494 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:26217265:C:G,NC_000006.12:26217265:C:T
                            Gene:
                            H2AC8 (Varview), H2BC8 (Varview)
                            Functional Consequence:
                            synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1440081263 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:26217186 (GRCh38)
                              6:26217414 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:26217185:C:T
                              Gene:
                              H2AC8 (Varview), H2BC8 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,upstream_transcript_variant,missense_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:
                              15.

                              rs1439480490 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                6:26217220 (GRCh38)
                                6:26217448 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:26217219:C:A
                                Gene:
                                H2AC8 (Varview), H2BC8 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.0001/1 (ALFA)
                                HGVS:
                                16.

                                rs1433442309 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:26217322 (GRCh38)
                                  6:26217550 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:26217321:G:A
                                  Gene:
                                  H2AC8 (Varview), H2BC8 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000012/3 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1426994353 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    6:26217310 (GRCh38)
                                    6:26217538 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:26217309:C:T
                                    Gene:
                                    H2AC8 (Varview), H2BC8 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1422448600 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      6:26217004 (GRCh38)
                                      6:26217232 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:26217003:A:G,NC_000006.12:26217003:A:T
                                      Gene:
                                      H2AC8 (Varview), H2BC8 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1413731245 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:26217054 (GRCh38)
                                        6:26217282 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:26217053:C:T
                                        Gene:
                                        H2AC8 (Varview), H2BC8 (Varview)
                                        Functional Consequence:
                                        missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1411593684 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:26217303 (GRCh38)
                                          6:26217531 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:26217302:C:T
                                          Gene:
                                          H2AC8 (Varview), H2BC8 (Varview)
                                          Functional Consequence:
                                          missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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