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Items: 1 to 20 of 1271

1.

rs1491471721 has merged into rs35442441 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    1:210232177 (GRCh38)
    1:210405522 (GRCh37)
    Canonical SPDI:
    NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    SERTAD4 (Varview), SERTAD4-AS1 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.45/18 (GENOME_DK)
    HGVS:
    NC_000001.11:g.210232177_210232180del, NC_000001.11:g.210232179_210232180del, NC_000001.11:g.210232180del, NC_000001.11:g.210232180dup, NC_000001.11:g.210232179_210232180dup, NC_000001.11:g.210232178_210232180dup, NC_000001.11:g.210232177_210232180dup, NC_000001.11:g.210232171_210232180dup, NC_000001.11:g.210232170_210232180dup, NC_000001.11:g.210232180_210232181insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.210405522_210405525del, NC_000001.10:g.210405524_210405525del, NC_000001.10:g.210405525del, NC_000001.10:g.210405525dup, NC_000001.10:g.210405524_210405525dup, NC_000001.10:g.210405523_210405525dup, NC_000001.10:g.210405522_210405525dup, NC_000001.10:g.210405516_210405525dup, NC_000001.10:g.210405515_210405525dup, NC_000001.10:g.210405525_210405526insTTTTTTTTTTTTTTTTTT, NW_011332687.1:g.11919_11922del, NW_011332687.1:g.11921_11922del, NW_011332687.1:g.11922del, NW_011332687.1:g.11922dup, NW_011332687.1:g.11921_11922dup, NW_011332687.1:g.11920_11922dup, NW_011332687.1:g.11919_11922dup, NW_011332687.1:g.11913_11922dup, NW_011332687.1:g.11912_11922dup, NW_011332687.1:g.11922_11923insTTTTTTTTTTTTTTTTTT
    2.

    rs1491322844 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TA [Show Flanks]
      Chromosome:
      1:210233994 (GRCh38)
      1:210407340 (GRCh37)
      Canonical SPDI:
      NC_000001.11:210233994::TA
      Gene:
      SERTAD4 (Varview), SERTAD4-AS1 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TA=0./0 (ALFA)
      TA=0.000057/15 (TOPMED)
      TA=0.000111/15 (GnomAD)
      HGVS:
      3.

      rs1491226894 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        1:210233994 (GRCh38)
        1:210407339 (GRCh37)
        Canonical SPDI:
        NC_000001.11:210233993:TA:
        Gene:
        SERTAD4 (Varview), SERTAD4-AS1 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00084/10 (ALFA)
        -=0.00227/220 (GnomAD)
        HGVS:
        4.

        rs1490561179 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          1:210234691 (GRCh38)
          1:210408036 (GRCh37)
          Canonical SPDI:
          NC_000001.11:210234690:A:C,NC_000001.11:210234690:A:G
          Gene:
          SERTAD4 (Varview), SERTAD4-AS1 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490254495 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            1:210233778 (GRCh38)
            1:210407123 (GRCh37)
            Canonical SPDI:
            NC_000001.11:210233777:C:A,NC_000001.11:210233777:C:T
            Gene:
            SERTAD4 (Varview), SERTAD4-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000007/1 (GnomAD_exomes)
            A=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1489659028 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              1:210233095 (GRCh38)
              1:210406440 (GRCh37)
              Canonical SPDI:
              NC_000001.11:210233094:C:G,NC_000001.11:210233094:C:T
              Gene:
              SERTAD4 (Varview), SERTAD4-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1488324818 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:210231915 (GRCh38)
                1:210405260 (GRCh37)
                Canonical SPDI:
                NC_000001.11:210231914:G:A
                Gene:
                SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1487993763 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:210232866 (GRCh38)
                  1:210406211 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:210232865:T:C
                  Gene:
                  SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000019/5 (TOPMED)
                  C=0.000156/1 (1000Genomes)
                  HGVS:
                  9.

                  rs1487880532 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:210232195 (GRCh38)
                    1:210405540 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:210232194:T:C
                    Gene:
                    SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.0002/1 (ALFA)
                    C=0.0002/1 (Estonian)
                    C=0.0275/80 (KOREAN)
                    HGVS:
                    10.

                    rs1487826069 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:210232816 (GRCh38)
                      1:210406161 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:210232815:C:T
                      Gene:
                      SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000043/6 (GnomAD)
                      T=0.000057/15 (TOPMED)
                      HGVS:
                      11.

                      rs1487734452 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,T [Show Flanks]
                        Chromosome:
                        1:210233527 (GRCh38)
                        1:210406872 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:210233526:A:C,NC_000001.11:210233526:A:T
                        Gene:
                        SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0./0 (GnomAD)
                        HGVS:
                        12.

                        rs1487498272 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          1:210232485 (GRCh38)
                          1:210405830 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:210232484:T:A
                          Gene:
                          SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000015/2 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1487424304 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            1:210232808 (GRCh38)
                            1:210406153 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:210232807:G:T
                            Gene:
                            SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000023/6 (TOPMED)
                            T=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs1487405887 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              1:210233198 (GRCh38)
                              1:210406543 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:210233197:G:A,NC_000001.11:210233197:G:C,NC_000001.11:210233197:G:T
                              Gene:
                              SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000023/6 (TOPMED)
                              T=0.000312/2 (1000Genomes)
                              HGVS:
                              15.

                              rs1487305054 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:210235407 (GRCh38)
                                1:210408752 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:210235406:T:C
                                Gene:
                                SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1486419791 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:210235920 (GRCh38)
                                  1:210409265 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:210235919:C:A
                                  Gene:
                                  SERTAD4 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.0002/1 (ALFA)
                                  A=0.0002/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1485997188 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:210232165 (GRCh38)
                                    1:210405510 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:210232164:T:C
                                    Gene:
                                    SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000019/5 (TOPMED)
                                    C=0.000063/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485866295 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:210232135 (GRCh38)
                                      1:210405480 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:210232134:C:T
                                      Gene:
                                      SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1485466754 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:210232095 (GRCh38)
                                        1:210405440 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:210232094:G:A
                                        Gene:
                                        SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1485348384 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C,T [Show Flanks]
                                          Chromosome:
                                          1:210234286 (GRCh38)
                                          1:210407631 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:210234285:G:A,NC_000001.11:210234285:G:C,NC_000001.11:210234285:G:T
                                          Gene:
                                          SERTAD4 (Varview), SERTAD4-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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)
                                          C=0.001028/3 (KOREAN)
                                          HGVS:

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