U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 12491

1.

rs1491537646 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    20:5996383 (GRCh38)
    20:5977030 (GRCh37)
    Canonical SPDI:
    NC_000020.11:5996383:T:TT
    Gene:
    MCM8 (Varview), MCM8-AS1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TT=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1491476750 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->AT [Show Flanks]
      Chromosome:
      20:5994751 (GRCh38)
      20:5975398 (GRCh37)
      Canonical SPDI:
      NC_000020.11:5994751:AT:ATAT
      Gene:
      MCM8 (Varview), MCM8-AS1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      ATAT=0./0 (ALFA)
      AT=0.000029/4 (GnomAD)
      HGVS:

      3.

      rs1491467192 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        20:5968059 (GRCh38)
        20:5948706 (GRCh37)
        Canonical SPDI:
        NC_000020.11:5968059:G:GG
        Gene:
        MCM8 (Varview)
        Functional Consequence:
        intron_variant
        HGVS:

        4.

        rs1491435597 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TGCG,TGTGTGTGCG [Show Flanks]
          Chromosome:
          20:5953470 (GRCh38)
          20:5934117 (GRCh37)
          Canonical SPDI:
          NC_000020.11:5953470:G:GTGCG,NC_000020.11:5953470:G:GTGTGTGTGCG
          Gene:
          MCM8 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGTGTGTGCG=0./0 (ALFA)
          GTGTGTGTGC=0.000004/1 (TOPMED)
          GTGC=0.000008/1 (GnomAD)
          HGVS:

          5.

          rs1491384292 has merged into rs36027696 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            20:5980882 (GRCh38)
            20:5961528 (GRCh37)
            Canonical SPDI:
            NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:5980873:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            MCM8 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAA=0./0 (ALFA)
            -=0.000008/2 (TOPMED)
            -=0.085766/47 (NorthernSweden)
            -=0.373602/1871 (1000Genomes)
            HGVS:
            NC_000020.11:g.5980882_5980892del, NC_000020.11:g.5980885_5980892del, NC_000020.11:g.5980886_5980892del, NC_000020.11:g.5980888_5980892del, NC_000020.11:g.5980889_5980892del, NC_000020.11:g.5980890_5980892del, NC_000020.11:g.5980891_5980892del, NC_000020.11:g.5980892del, NC_000020.11:g.5980892dup, NC_000020.11:g.5980891_5980892dup, NC_000020.11:g.5980890_5980892dup, NC_000020.11:g.5980888_5980892dup, NC_000020.11:g.5980892_5980893insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.5961528_5961538del, NC_000020.10:g.5961531_5961538del, NC_000020.10:g.5961532_5961538del, NC_000020.10:g.5961534_5961538del, NC_000020.10:g.5961535_5961538del, NC_000020.10:g.5961536_5961538del, NC_000020.10:g.5961537_5961538del, NC_000020.10:g.5961538del, NC_000020.10:g.5961538dup, NC_000020.10:g.5961537_5961538dup, NC_000020.10:g.5961536_5961538dup, NC_000020.10:g.5961534_5961538dup, NC_000020.10:g.5961538_5961539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_042869.1:g.35231_35241del, NG_042869.1:g.35234_35241del, NG_042869.1:g.35235_35241del, NG_042869.1:g.35237_35241del, NG_042869.1:g.35238_35241del, NG_042869.1:g.35239_35241del, NG_042869.1:g.35240_35241del, NG_042869.1:g.35241del, NG_042869.1:g.35241dup, NG_042869.1:g.35240_35241dup, NG_042869.1:g.35239_35241dup, NG_042869.1:g.35237_35241dup, NG_042869.1:g.35241_35242insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

            6.

            rs1491342420 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              20:5999172 (GRCh38)
              20:5979818 (GRCh37)
              Canonical SPDI:
              NC_000020.11:5999171:CT:
              Gene:
              MCM8 (Varview), MCM8-AS1 (Varview)
              Functional Consequence:
              500B_downstream_variant,intron_variant,downstream_transcript_variant
              Validated:
              by cluster
              HGVS:

              7.

              rs1491284367 has merged into rs59820663 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
                Chromosome:
                20:5985455 (GRCh38)
                20:5966101 (GRCh37)
                Canonical SPDI:
                NC_000020.11:5985441:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:5985441:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:5985441:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:5985441:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:5985441:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:5985441:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:5985441:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:5985441:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                Gene:
                MCM8 (Varview)
                Functional Consequence:
                downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAA=0./0 (ALFA)
                -=0.4103/2055 (1000Genomes)
                HGVS:

                8.

                rs1491272808 has merged into rs140231062 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TA>-,TATA,TATATA [Show Flanks]
                  Chromosome:
                  20:5999498 (GRCh38)
                  20:5980144 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:5999484:ATATATATATATATA:ATATATATATATA,NC_000020.11:5999484:ATATATATATATATA:ATATATATATATATATA,NC_000020.11:5999484:ATATATATATATATA:ATATATATATATATATATA
                  Gene:
                  MCM8-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATATATATATATATATATA=0./0 (ALFA)
                  AT=0.00156/7 (Estonian)
                  AT=0.025/1 (GENOME_DK)
                  HGVS:

                  9.

                  rs1491232436 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    20:5980873 (GRCh38)
                    20:5961519 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:5980872:CA:
                    Gene:
                    MCM8 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00008/1 (ALFA)
                    HGVS:

                    10.

                    rs1491219631 has merged into rs11364488 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
                      Chromosome:
                      20:5969606 (GRCh38)
                      20:5950252 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:5969593:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      MCM8 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAAA=0./0 (ALFA)
                      HGVS:
                      NC_000020.11:g.5969606_5969610del, NC_000020.11:g.5969607_5969610del, NC_000020.11:g.5969608_5969610del, NC_000020.11:g.5969609_5969610del, NC_000020.11:g.5969610del, NC_000020.11:g.5969610dup, NC_000020.11:g.5969609_5969610dup, NC_000020.11:g.5969608_5969610dup, NC_000020.11:g.5969607_5969610dup, NC_000020.10:g.5950252_5950256del, NC_000020.10:g.5950253_5950256del, NC_000020.10:g.5950254_5950256del, NC_000020.10:g.5950255_5950256del, NC_000020.10:g.5950256del, NC_000020.10:g.5950256dup, NC_000020.10:g.5950255_5950256dup, NC_000020.10:g.5950254_5950256dup, NC_000020.10:g.5950253_5950256dup, NG_042869.1:g.23955_23959del, NG_042869.1:g.23956_23959del, NG_042869.1:g.23957_23959del, NG_042869.1:g.23958_23959del, NG_042869.1:g.23959del, NG_042869.1:g.23959dup, NG_042869.1:g.23958_23959dup, NG_042869.1:g.23957_23959dup, NG_042869.1:g.23956_23959dup

                      11.

                      rs1491185939 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        20:5985441 (GRCh38)
                        20:5966087 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:5985440:CA:
                        Gene:
                        MCM8 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.00025/7 (TOMMO)
                        -=0.00166/3 (Korea1K)
                        HGVS:

                        12.

                        rs1491147323 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          20:5968060 (GRCh38)
                          20:5948707 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:5968058:AGA:A
                          Gene:
                          MCM8 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1491118577 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TG>- [Show Flanks]
                            Chromosome:
                            20:5996388 (GRCh38)
                            20:5977034 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:5996382:GTGTGTG:GTGTG
                            Gene:
                            MCM8 (Varview), MCM8-AS1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GTGTG=0./0 (ALFA)
                            -=0./0 (GnomAD)
                            -=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1491061290 has merged into rs71334371 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              20:5997194 (GRCh38)
                              20:5977840 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:5997185:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              MCM8 (Varview), MCM8-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTT=0./0 (ALFA)
                              -=0.000011/3 (TOPMED)
                              -=0.222644/1115 (1000Genomes)
                              HGVS:
                              NC_000020.11:g.5997194_5997201del, NC_000020.11:g.5997195_5997201del, NC_000020.11:g.5997196_5997201del, NC_000020.11:g.5997197_5997201del, NC_000020.11:g.5997198_5997201del, NC_000020.11:g.5997199_5997201del, NC_000020.11:g.5997200_5997201del, NC_000020.11:g.5997201del, NC_000020.11:g.5997201dup, NC_000020.11:g.5997200_5997201dup, NC_000020.11:g.5997199_5997201dup, NC_000020.11:g.5997195_5997201dup, NC_000020.11:g.5997194_5997201dup, NC_000020.11:g.5997191_5997201dup, NC_000020.11:g.5997201_5997202insTTTTTTTTTTTTTTTTT, NC_000020.11:g.5997201_5997202insTTTTTTTTTTTTTTTTTT, NC_000020.11:g.5997201_5997202insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.5977840_5977847del, NC_000020.10:g.5977841_5977847del, NC_000020.10:g.5977842_5977847del, NC_000020.10:g.5977843_5977847del, NC_000020.10:g.5977844_5977847del, NC_000020.10:g.5977845_5977847del, NC_000020.10:g.5977846_5977847del, NC_000020.10:g.5977847del, NC_000020.10:g.5977847dup, NC_000020.10:g.5977846_5977847dup, NC_000020.10:g.5977845_5977847dup, NC_000020.10:g.5977841_5977847dup, NC_000020.10:g.5977840_5977847dup, NC_000020.10:g.5977837_5977847dup, NC_000020.10:g.5977847_5977848insTTTTTTTTTTTTTTTTT, NC_000020.10:g.5977847_5977848insTTTTTTTTTTTTTTTTTT, NC_000020.10:g.5977847_5977848insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042869.1:g.51543_51550del, NG_042869.1:g.51544_51550del, NG_042869.1:g.51545_51550del, NG_042869.1:g.51546_51550del, NG_042869.1:g.51547_51550del, NG_042869.1:g.51548_51550del, NG_042869.1:g.51549_51550del, NG_042869.1:g.51550del, NG_042869.1:g.51550dup, NG_042869.1:g.51549_51550dup, NG_042869.1:g.51548_51550dup, NG_042869.1:g.51544_51550dup, NG_042869.1:g.51543_51550dup, NG_042869.1:g.51540_51550dup, NG_042869.1:g.51550_51551insTTTTTTTTTTTTTTTTT, NG_042869.1:g.51550_51551insTTTTTTTTTTTTTTTTTT, NG_042869.1:g.51550_51551insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_032485.6:c.*2803_*2810del, NM_032485.6:c.*2804_*2810del, NM_032485.6:c.*2805_*2810del, NM_032485.6:c.*2806_*2810del, NM_032485.6:c.*2807_*2810del, NM_032485.6:c.*2808_*2810del, NM_032485.6:c.*2809_*2810del, NM_032485.6:c.*2810del, NM_032485.6:c.*2810dup, NM_032485.6:c.*2809_*2810dup, NM_032485.6:c.*2808_*2810dup, NM_032485.6:c.*2804_*2810dup, NM_032485.6:c.*2803_*2810dup, NM_032485.6:c.*2800_*2810dup, NM_032485.6:c.*2810_*2811insTTTTTTTTTTTTTTTTT, NM_032485.6:c.*2810_*2811insTTTTTTTTTTTTTTTTTT, NM_032485.6:c.*2810_*2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_182802.3:c.*2803_*2810del, NM_182802.3:c.*2804_*2810del, NM_182802.3:c.*2805_*2810del, NM_182802.3:c.*2806_*2810del, NM_182802.3:c.*2807_*2810del, NM_182802.3:c.*2808_*2810del, NM_182802.3:c.*2809_*2810del, NM_182802.3:c.*2810del, NM_182802.3:c.*2810dup, NM_182802.3:c.*2809_*2810dup, NM_182802.3:c.*2808_*2810dup, NM_182802.3:c.*2804_*2810dup, NM_182802.3:c.*2803_*2810dup, NM_182802.3:c.*2800_*2810dup, NM_182802.3:c.*2810_*2811insTTTTTTTTTTTTTTTTT, NM_182802.3:c.*2810_*2811insTTTTTTTTTTTTTTTTTT, NM_182802.3:c.*2810_*2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001281521.2:c.*2803_*2810del, NM_001281521.2:c.*2804_*2810del, NM_001281521.2:c.*2805_*2810del, NM_001281521.2:c.*2806_*2810del, NM_001281521.2:c.*2807_*2810del, NM_001281521.2:c.*2808_*2810del, NM_001281521.2:c.*2809_*2810del, NM_001281521.2:c.*2810del, NM_001281521.2:c.*2810dup, NM_001281521.2:c.*2809_*2810dup, NM_001281521.2:c.*2808_*2810dup, NM_001281521.2:c.*2804_*2810dup, NM_001281521.2:c.*2803_*2810dup, NM_001281521.2:c.*2800_*2810dup, NM_001281521.2:c.*2810_*2811insTTTTTTTTTTTTTTTTT, NM_001281521.2:c.*2810_*2811insTTTTTTTTTTTTTTTTTT, NM_001281521.2:c.*2810_*2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001281520.2:c.*2803_*2810del, NM_001281520.2:c.*2804_*2810del, NM_001281520.2:c.*2805_*2810del, NM_001281520.2:c.*2806_*2810del, NM_001281520.2:c.*2807_*2810del, NM_001281520.2:c.*2808_*2810del, NM_001281520.2:c.*2809_*2810del, NM_001281520.2:c.*2810del, NM_001281520.2:c.*2810dup, NM_001281520.2:c.*2809_*2810dup, NM_001281520.2:c.*2808_*2810dup, NM_001281520.2:c.*2804_*2810dup, NM_001281520.2:c.*2803_*2810dup, NM_001281520.2:c.*2800_*2810dup, NM_001281520.2:c.*2810_*2811insTTTTTTTTTTTTTTTTT, NM_001281520.2:c.*2810_*2811insTTTTTTTTTTTTTTTTTT, NM_001281520.2:c.*2810_*2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001281522.2:c.*2803_*2810del, NM_001281522.2:c.*2804_*2810del, NM_001281522.2:c.*2805_*2810del, NM_001281522.2:c.*2806_*2810del, NM_001281522.2:c.*2807_*2810del, NM_001281522.2:c.*2808_*2810del, NM_001281522.2:c.*2809_*2810del, NM_001281522.2:c.*2810del, NM_001281522.2:c.*2810dup, NM_001281522.2:c.*2809_*2810dup, NM_001281522.2:c.*2808_*2810dup, NM_001281522.2:c.*2804_*2810dup, NM_001281522.2:c.*2803_*2810dup, NM_001281522.2:c.*2800_*2810dup, NM_001281522.2:c.*2810_*2811insTTTTTTTTTTTTTTTTT, NM_001281522.2:c.*2810_*2811insTTTTTTTTTTTTTTTTTT, NM_001281522.2:c.*2810_*2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017028105.2:c.*2803_*2810del, XM_017028105.2:c.*2804_*2810del, XM_017028105.2:c.*2805_*2810del, XM_017028105.2:c.*2806_*2810del, XM_017028105.2:c.*2807_*2810del, XM_017028105.2:c.*2808_*2810del, XM_017028105.2:c.*2809_*2810del, XM_017028105.2:c.*2810del, XM_017028105.2:c.*2810dup, XM_017028105.2:c.*2809_*2810dup, XM_017028105.2:c.*2808_*2810dup, XM_017028105.2:c.*2804_*2810dup, XM_017028105.2:c.*2803_*2810dup, XM_017028105.2:c.*2800_*2810dup, XM_017028105.2:c.*2810_*2811insTTTTTTTTTTTTTTTTT, XM_017028105.2:c.*2810_*2811insTTTTTTTTTTTTTTTTTT, XM_017028105.2:c.*2810_*2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017028105.1:c.*2803_*2810del, XM_017028105.1:c.*2804_*2810del, XM_017028105.1:c.*2805_*2810del, XM_017028105.1:c.*2806_*2810del, XM_017028105.1:c.*2807_*2810del, XM_017028105.1:c.*2808_*2810del, XM_017028105.1:c.*2809_*2810del, XM_017028105.1:c.*2810del, XM_017028105.1:c.*2810dup, XM_017028105.1:c.*2809_*2810dup, XM_017028105.1:c.*2808_*2810dup, XM_017028105.1:c.*2804_*2810dup, XM_017028105.1:c.*2803_*2810dup, XM_017028105.1:c.*2800_*2810dup, XM_017028105.1:c.*2810_*2811insTTTTTTTTTTTTTTTTT, XM_017028105.1:c.*2810_*2811insTTTTTTTTTTTTTTTTTT, XM_017028105.1:c.*2810_*2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047440552.1:c.*2803_*2810del, XM_047440552.1:c.*2804_*2810del, XM_047440552.1:c.*2805_*2810del, XM_047440552.1:c.*2806_*2810del, XM_047440552.1:c.*2807_*2810del, XM_047440552.1:c.*2808_*2810del, XM_047440552.1:c.*2809_*2810del, XM_047440552.1:c.*2810del, XM_047440552.1:c.*2810dup, XM_047440552.1:c.*2809_*2810dup, XM_047440552.1:c.*2808_*2810dup, XM_047440552.1:c.*2804_*2810dup, XM_047440552.1:c.*2803_*2810dup, XM_047440552.1:c.*2800_*2810dup, XM_047440552.1:c.*2810_*2811insTTTTTTTTTTTTTTTTT, XM_047440552.1:c.*2810_*2811insTTTTTTTTTTTTTTTTTT, XM_047440552.1:c.*2810_*2811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                              15.

                              rs1491053304 has merged into rs11478703 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
                                Chromosome:
                                20:5964129 (GRCh38)
                                20:5944775 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:5964119:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                                Gene:
                                MCM8 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTTTTT=0./0 (ALFA)
                                -=0.1238/477 (ALSPAC)
                                T=0.1709/856 (1000Genomes)
                                HGVS:
                                NC_000020.11:g.5964129_5964136del, NC_000020.11:g.5964131_5964136del, NC_000020.11:g.5964132_5964136del, NC_000020.11:g.5964133_5964136del, NC_000020.11:g.5964134_5964136del, NC_000020.11:g.5964135_5964136del, NC_000020.11:g.5964136del, NC_000020.11:g.5964136dup, NC_000020.11:g.5964135_5964136dup, NC_000020.10:g.5944775_5944782del, NC_000020.10:g.5944777_5944782del, NC_000020.10:g.5944778_5944782del, NC_000020.10:g.5944779_5944782del, NC_000020.10:g.5944780_5944782del, NC_000020.10:g.5944781_5944782del, NC_000020.10:g.5944782del, NC_000020.10:g.5944782dup, NC_000020.10:g.5944781_5944782dup, NG_042869.1:g.18478_18485del, NG_042869.1:g.18480_18485del, NG_042869.1:g.18481_18485del, NG_042869.1:g.18482_18485del, NG_042869.1:g.18483_18485del, NG_042869.1:g.18484_18485del, NG_042869.1:g.18485del, NG_042869.1:g.18485dup, NG_042869.1:g.18484_18485dup

                                16.

                                rs1490909669 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  20:5999957 (GRCh38)
                                  20:5980603 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:5999956:C:A
                                  Gene:
                                  MCM8-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490895829 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->GCCA [Show Flanks]
                                    Chromosome:
                                    20:5988197 (GRCh38)
                                    20:5968844 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:5988197:CA:CAGCCA
                                    Gene:
                                    MCM8 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CAGCCA=0.000169/2 (ALFA)
                                    CAGC=0.000221/31 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490754251 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TCCTT>- [Show Flanks]
                                      Chromosome:
                                      20:5991702 (GRCh38)
                                      20:5972348 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:5991698:CTTTCCTT:CTT
                                      Gene:
                                      MCM8 (Varview), MCM8-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CTT=0./0 (ALFA)
                                      -=0./0 (GnomAD)
                                      -=0.000011/3 (TOPMED)
                                      -=0.000156/1 (1000Genomes)
                                      -=0.004673/1 (Vietnamese)
                                      HGVS:

                                      19.

                                      rs1490700932 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:5976688 (GRCh38)
                                        20:5957334 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:5976687:T:C
                                        Gene:
                                        MCM8 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490697593 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          20:5970424 (GRCh38)
                                          20:5951070 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:5970423:T:
                                          Gene:
                                          MCM8 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.000071/1 (ALFA)
                                          -=0.000008/2 (TOPMED)
                                          -=0.000014/2 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...