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Items: 1 to 20 of 16120

1.

rs1491561249 has merged into rs1210022653 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT [Show Flanks]
    Chromosome:
    6:22649690 (GRCh38)
    6:22649919 (GRCh37)
    Canonical SPDI:
    NC_000006.12:22649679:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:22649679:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:22649679:TTTTTTTTTTTT:TTTTTTTTTTTTT
    Gene:
    LINC03005 (Varview), LOC105374973 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTT=0./0 (ALFA)
    T=0.00973/163 (TOMMO)
    HGVS:
    2.

    rs1491525977 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->CA,CCA,CCT,G,T [Show Flanks]
      Chromosome:
      6:22693888 (GRCh38)
      6:22694118 (GRCh37)
      Canonical SPDI:
      NC_000006.12:22693888::CA,NC_000006.12:22693888::CCA,NC_000006.12:22693888::CCT,NC_000006.12:22693888::G,NC_000006.12:22693888::T
      Gene:
      LINC03005 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCA=0./0 (ALFA)
      CCA=0.000004/1 (TOPMED)
      T=0.00006/1 (TOMMO)
      HGVS:
      3.

      rs1491498819 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,TTT [Show Flanks]
        Chromosome:
        6:22715296 (GRCh38)
        6:22715525 (GRCh37)
        Canonical SPDI:
        NC_000006.12:22715291:TTTTTT:TTTT,NC_000006.12:22715291:TTTTTT:TTTTTTT
        Gene:
        LINC03005 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTT=0./0 (ALFA)
        -=0.000036/5 (GnomAD)
        T=0.000071/2 (TOMMO)
        -=0.002729/5 (Korea1K)
        HGVS:
        4.

        rs1491491465 has merged into rs10710539 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
          Chromosome:
          6:22693885 (GRCh38)
          6:22694114 (GRCh37)
          Canonical SPDI:
          NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:22693876:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
          Gene:
          LINC03005 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CCCCCCCCCCCCCCC=0./0 (ALFA)
          HGVS:
          5.

          rs1491487461 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->A,G [Show Flanks]
            Chromosome:
            6:22693877 (GRCh38)
            6:22694107 (GRCh37)
            Canonical SPDI:
            NC_000006.12:22693877::A,NC_000006.12:22693877::G
            Gene:
            LINC03005 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            G=0.000138/1 (GnomAD)
            HGVS:
            6.

            rs1491430900 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              6:22693888 (GRCh38)
              6:22694117 (GRCh37)
              Canonical SPDI:
              NC_000006.12:22693887:CA:
              Gene:
              LINC03005 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1491410703 has merged into rs149215528 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GAGA>-,GA,GAGAGA [Show Flanks]
                Chromosome:
                6:22702879 (GRCh38)
                6:22703108 (GRCh37)
                Canonical SPDI:
                NC_000006.12:22702865:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000006.12:22702865:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000006.12:22702865:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
                Gene:
                LINC03005 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AGAGAGAGAGAGAGA=0./0 (ALFA)
                AG=0.00047/3 (1000Genomes)
                HGVS:
                8.

                rs1491264232 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  6:22715292 (GRCh38)
                  6:22715522 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:22715292::A
                  Gene:
                  LINC03005 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000224/1 (ALFA)
                  A=0.000035/1 (TOMMO)
                  A=0.000223/1 (Estonian)
                  A=0.000765/107 (GnomAD)
                  A=0.002729/5 (Korea1K)
                  HGVS:
                  9.

                  rs1491228314 has merged into rs34573706 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AC>- [Show Flanks]
                    Chromosome:
                    6:22693876 (GRCh38)
                    6:22694105 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:22693875:AC:
                    Gene:
                    LINC03005 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.14968/555 (TWINSUK)
                    -=0.16243/626 (ALSPAC)
                    HGVS:
                    10.

                    rs1491213693 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->TAAA,TATAAA [Show Flanks]
                      Chromosome:
                      6:22644816 (GRCh38)
                      6:22645046 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:22644816:A:ATAAA,NC_000006.12:22644816:A:ATATAAA
                      Gene:
                      LINC03005 (Varview), LOC105374973 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATATAAA=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491213240 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->ACC,GC [Show Flanks]
                        Chromosome:
                        6:22693876 (GRCh38)
                        6:22694106 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:22693876:C:CACC,NC_000006.12:22693876:C:CGC
                        Gene:
                        LINC03005 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CGC=0./0 (ALFA)
                        CAC=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1491151442 has merged into rs34438001 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
                          Chromosome:
                          6:22685290 (GRCh38)
                          6:22685519 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:22685278:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
                          Gene:
                          LINC03005 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTTTTTT=0./0 (ALFA)
                          -=0.4077/2042 (1000Genomes)
                          T=0.425/17 (GENOME_DK)
                          HGVS:
                          13.

                          rs1491074161 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            6:22693878 (GRCh38)
                            6:22694108 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:22693878::G
                            Gene:
                            LINC03005 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            G=0.00003/1 (GnomAD)
                            HGVS:
                            14.

                            rs1491057193 has merged into rs70996696 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AA>-,A,AAA,AAAA [Show Flanks]
                              Chromosome:
                              6:22698986 (GRCh38)
                              6:22699215 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:22698976:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:22698976:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:22698976:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:22698976:AAAAAAAAAAA:AAAAAAAAAAAAA
                              Gene:
                              LINC03005 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAA=0./0 (ALFA)
                              -=0.405/1601 (1000Genomes)
                              HGVS:
                              15.

                              rs1491038590 has merged into rs35444095 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                6:22676090 (GRCh38)
                                6:22676319 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:22676078:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                LINC03005 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAA=0./0 (ALFA)
                                -=0.2542/1273 (1000Genomes)
                                HGVS:
                                16.

                                rs1491033373 has merged into rs57982782 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  6:22650519 (GRCh38)
                                  6:22650748 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:22650506:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  LINC03005 (Varview), LOC105374973 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTTTT=0./0 (ALFA)
                                  T=0.0203/12 (NorthernSweden)
                                  -=0.1599/801 (1000Genomes)
                                  T=0.375/3 (KOREAN)
                                  HGVS:
                                  NC_000006.12:g.22650519_22650523del, NC_000006.12:g.22650520_22650523del, NC_000006.12:g.22650521_22650523del, NC_000006.12:g.22650522_22650523del, NC_000006.12:g.22650523del, NC_000006.12:g.22650523dup, NC_000006.12:g.22650522_22650523dup, NC_000006.12:g.22650521_22650523dup, NC_000006.12:g.22650520_22650523dup, NC_000006.12:g.22650519_22650523dup, NC_000006.12:g.22650516_22650523dup, NC_000006.12:g.22650523_22650524insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.22650523_22650524insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.22650523_22650524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.22650748_22650752del, NC_000006.11:g.22650749_22650752del, NC_000006.11:g.22650750_22650752del, NC_000006.11:g.22650751_22650752del, NC_000006.11:g.22650752del, NC_000006.11:g.22650752dup, NC_000006.11:g.22650751_22650752dup, NC_000006.11:g.22650750_22650752dup, NC_000006.11:g.22650749_22650752dup, NC_000006.11:g.22650748_22650752dup, NC_000006.11:g.22650745_22650752dup, NC_000006.11:g.22650752_22650753insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.22650752_22650753insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.22650752_22650753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  17.

                                  rs1491032042 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->G [Show Flanks]
                                    Chromosome:
                                    6:22681248 (GRCh38)
                                    6:22681478 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:22681248::G
                                    Gene:
                                    LINC03005 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.00017/2 (ALFA)
                                    G=0.00038/35 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491013225 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GT>- [Show Flanks]
                                      Chromosome:
                                      6:22681252 (GRCh38)
                                      6:22681481 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:22681248:TGTGT:TGT
                                      Gene:
                                      LINC03005 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TGT=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490941035 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:22645344 (GRCh38)
                                        6:22645573 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:22645343:A:G
                                        Gene:
                                        LINC03005 (Varview), LOC105374973 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490923596 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:22663565 (GRCh38)
                                          6:22663794 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:22663564:C:T
                                          Gene:
                                          LOC102724736 (Varview), LINC03005 (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:

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