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Items: 1 to 20 of 5035

1.

rs1491184187 has merged into rs533822857 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
    Chromosome:
    22:20131104 (GRCh38)
    22:20118627 (GRCh37)
    Canonical SPDI:
    NC_000022.11:20131098:GGGGGGGGG:GGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGGGGGGG
    Gene:
    ZDHHC8 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGG=0./0 (ALFA)
    -=0.175/7 (GENOME_DK)
    G=0.20266/122 (1000Genomes)
    HGVS:
    2.

    rs1490787277 has merged into rs34467871 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAA>-,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      22:20133730 (GRCh38)
      22:20121253 (GRCh37)
      Canonical SPDI:
      NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
      Gene:
      ZDHHC8 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAA=0./0 (ALFA)
      -=0.047/25 (NorthernSweden)
      HGVS:
      NC_000022.11:g.20133730_20133740del, NC_000022.11:g.20133733_20133740del, NC_000022.11:g.20133734_20133740del, NC_000022.11:g.20133737_20133740del, NC_000022.11:g.20133738_20133740del, NC_000022.11:g.20133739_20133740del, NC_000022.11:g.20133740del, NC_000022.11:g.20133740dup, NC_000022.11:g.20133739_20133740dup, NC_000022.11:g.20133738_20133740dup, NC_000022.10:g.20121253_20121263del, NC_000022.10:g.20121256_20121263del, NC_000022.10:g.20121257_20121263del, NC_000022.10:g.20121260_20121263del, NC_000022.10:g.20121261_20121263del, NC_000022.10:g.20121262_20121263del, NC_000022.10:g.20121263del, NC_000022.10:g.20121263dup, NC_000022.10:g.20121262_20121263dup, NC_000022.10:g.20121261_20121263dup, NG_021420.1:g.6890_6900del, NG_021420.1:g.6893_6900del, NG_021420.1:g.6894_6900del, NG_021420.1:g.6897_6900del, NG_021420.1:g.6898_6900del, NG_021420.1:g.6899_6900del, NG_021420.1:g.6900del, NG_021420.1:g.6900dup, NG_021420.1:g.6899_6900dup, NG_021420.1:g.6898_6900dup
      3.

      rs1490772066 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        22:20134669 (GRCh38)
        22:20122192 (GRCh37)
        Canonical SPDI:
        NC_000022.11:20134668:G:A
        Gene:
        ZDHHC8 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490695916 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          22:20132962 (GRCh38)
          22:20120485 (GRCh37)
          Canonical SPDI:
          NC_000022.11:20132961:A:G
          Gene:
          ZDHHC8 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000015/4 (TOPMED)
          G=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1490674892 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            22:20139792 (GRCh38)
            22:20127315 (GRCh37)
            Canonical SPDI:
            NC_000022.11:20139791:C:T
            Gene:
            ZDHHC8 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000047/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1490649576 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:20131940 (GRCh38)
              22:20119463 (GRCh37)
              Canonical SPDI:
              NC_000022.11:20131939:C:T
              Gene:
              ZDHHC8 (Varview)
              Functional Consequence:
              5_prime_UTR_variant
              HGVS:
              7.
              8.

              rs1490574676 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                22:20139964 (GRCh38)
                22:20127487 (GRCh37)
                Canonical SPDI:
                NC_000022.11:20139963:G:C
                Gene:
                ZDHHC8 (Varview)
                Functional Consequence:
                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:
                9.

                rs1490425741 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  22:20147185 (GRCh38)
                  22:20134708 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:20147184:T:C
                  Gene:
                  ZDHHC8 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  10.

                  rs1490208012 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    22:20136003 (GRCh38)
                    22:20123526 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:20136002:T:C
                    Gene:
                    ZDHHC8 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    11.

                    rs1490151964 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      22:20133857 (GRCh38)
                      22:20121380 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:20133856:G:A,NC_000022.11:20133856:G:T
                      Gene:
                      ZDHHC8 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      A=0.000023/6 (TOPMED)
                      T=0.000035/1 (TOMMO)
                      A=0.000156/1 (1000Genomes)
                      HGVS:
                      12.

                      rs1490095622 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        22:20147884 (GRCh38)
                        22:20135407 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:20147883:T:C
                        Gene:
                        ZDHHC8 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        13.

                        rs1489953323 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CC>-,C [Show Flanks]
                          Chromosome:
                          22:20148395 (GRCh38)
                          22:20135918 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:20148391:CCCCC:CCC,NC_000022.11:20148391:CCCCC:CCCC
                          Gene:
                          ZDHHC8 (Varview), CCDC188 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CCCC=0./0 (ALFA)
                          -=0.000023/6 (TOPMED)
                          HGVS:
                          14.

                          rs1489953021 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            22:20135216 (GRCh38)
                            22:20122739 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:20135215:A:G
                            Gene:
                            ZDHHC8 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            15.

                            rs1489833560 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:20142467 (GRCh38)
                              22:20129990 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:20142466:C:T
                              Gene:
                              ZDHHC8 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1489743702 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                22:20132591 (GRCh38)
                                22:20120114 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:20132590:A:T
                                Gene:
                                ZDHHC8 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000011/3 (TOPMED)
                                T=0.000029/4 (GnomAD)
                                HGVS:
                                17.

                                rs1489502718 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  22:20147198 (GRCh38)
                                  22:20134721 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:20147197:C:T
                                  Gene:
                                  ZDHHC8 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000018/2 (GnomAD_exomes)
                                  HGVS:
                                  18.

                                  rs1489387046 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    22:20138936 (GRCh38)
                                    22:20126459 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:20138935:T:C
                                    Gene:
                                    ZDHHC8 (Varview)
                                    Functional Consequence:
                                    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:
                                    19.

                                    rs1489274394 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      22:20140080 (GRCh38)
                                      22:20127603 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:20140079:T:C
                                      Gene:
                                      ZDHHC8 (Varview)
                                      Functional Consequence:
                                      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:
                                      20.

                                      rs1489066028 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        22:20134692 (GRCh38)
                                        22:20122215 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:20134691:G:A,NC_000022.11:20134691:G:T
                                        Gene:
                                        ZDHHC8 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000066/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000223/1 (Estonian)
                                        HGVS:

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