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Items: 1 to 20 of 9341

1.

rs1491552436 has merged into rs58748109 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
    Chromosome:
    1:6541029 (GRCh38)
    1:6601089 (GRCh37)
    Canonical SPDI:
    NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6541011:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    NOL9 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.6541029_6541034del, NC_000001.11:g.6541031_6541034del, NC_000001.11:g.6541032_6541034del, NC_000001.11:g.6541033_6541034del, NC_000001.11:g.6541034del, NC_000001.11:g.6541034dup, NC_000001.11:g.6541033_6541034dup, NC_000001.11:g.6541032_6541034dup, NC_000001.11:g.6541031_6541034dup, NC_000001.10:g.6601089_6601094del, NC_000001.10:g.6601091_6601094del, NC_000001.10:g.6601092_6601094del, NC_000001.10:g.6601093_6601094del, NC_000001.10:g.6601094del, NC_000001.10:g.6601094dup, NC_000001.10:g.6601093_6601094dup, NC_000001.10:g.6601092_6601094dup, NC_000001.10:g.6601091_6601094dup, NG_042928.1:g.276_281del, NG_042928.1:g.278_281del, NG_042928.1:g.279_281del, NG_042928.1:g.280_281del, NG_042928.1:g.281del, NG_042928.1:g.281dup, NG_042928.1:g.280_281dup, NG_042928.1:g.279_281dup, NG_042928.1:g.278_281dup
    2.

    rs1491540188 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      1:6541011 (GRCh38)
      1:6601071 (GRCh37)
      Canonical SPDI:
      NC_000001.11:6541010:GT:
      Gene:
      NOL9 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.024448/290 (ALFA)
      -=0.015/240 (TOMMO)
      -=0.029306/3322 (GnomAD)
      HGVS:
      3.

      rs1491507068 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        1:6538018 (GRCh38)
        1:6598078 (GRCh37)
        Canonical SPDI:
        NC_000001.11:6538017:GT:
        Gene:
        NOL9 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00313/14 (ALFA)
        -=0.00164/3 (Korea1K)
        -=0.00313/14 (Estonian)
        -=0.00446/75 (TOMMO)
        HGVS:
        4.

        rs1491498112 has merged into rs35793215 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          1:6538000 (GRCh38)
          1:6598060 (GRCh37)
          Canonical SPDI:
          NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:6537991:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          NOL9 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.6538000_6538015del, NC_000001.11:g.6538001_6538015del, NC_000001.11:g.6538002_6538015del, NC_000001.11:g.6538003_6538015del, NC_000001.11:g.6538004_6538015del, NC_000001.11:g.6538007_6538015del, NC_000001.11:g.6538008_6538015del, NC_000001.11:g.6538009_6538015del, NC_000001.11:g.6538010_6538015del, NC_000001.11:g.6538011_6538015del, NC_000001.11:g.6538012_6538015del, NC_000001.11:g.6538013_6538015del, NC_000001.11:g.6538014_6538015del, NC_000001.11:g.6538015del, NC_000001.11:g.6538015dup, NC_000001.11:g.6538014_6538015dup, NC_000001.11:g.6538012_6538015dup, NC_000001.11:g.6538011_6538015dup, NC_000001.11:g.6538010_6538015dup, NC_000001.11:g.6538009_6538015dup, NC_000001.11:g.6538015_6538016insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.6598060_6598075del, NC_000001.10:g.6598061_6598075del, NC_000001.10:g.6598062_6598075del, NC_000001.10:g.6598063_6598075del, NC_000001.10:g.6598064_6598075del, NC_000001.10:g.6598067_6598075del, NC_000001.10:g.6598068_6598075del, NC_000001.10:g.6598069_6598075del, NC_000001.10:g.6598070_6598075del, NC_000001.10:g.6598071_6598075del, NC_000001.10:g.6598072_6598075del, NC_000001.10:g.6598073_6598075del, NC_000001.10:g.6598074_6598075del, NC_000001.10:g.6598075del, NC_000001.10:g.6598075dup, NC_000001.10:g.6598074_6598075dup, NC_000001.10:g.6598072_6598075dup, NC_000001.10:g.6598071_6598075dup, NC_000001.10:g.6598070_6598075dup, NC_000001.10:g.6598069_6598075dup, NC_000001.10:g.6598075_6598076insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491398536 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GC>- [Show Flanks]
            Chromosome:
            1:6544541 (GRCh38)
            1:6604601 (GRCh37)
            Canonical SPDI:
            NC_000001.11:6544539:CGC:C
            Gene:
            NOL9 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1491390912 has merged into rs34186512 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              1:6550695 (GRCh38)
              1:6610755 (GRCh37)
              Canonical SPDI:
              NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:6550683:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              NOL9 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTTTT=0./0 (ALFA)
              T=0.4591/2299 (1000Genomes)
              HGVS:
              7.

              rs1491363014 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->AT [Show Flanks]
                Chromosome:
                1:6542164 (GRCh38)
                1:6602225 (GRCh37)
                Canonical SPDI:
                NC_000001.11:6542164:T:TAT
                Gene:
                NOL9 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TAT=0./0 (ALFA)
                TA=0.0033/2 (GnomAD)
                HGVS:
                8.

                rs1491345917 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->CAA [Show Flanks]
                  Chromosome:
                  1:6527640 (GRCh38)
                  1:6587701 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:6527640:AA:AACAA
                  Gene:
                  NOL9 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  AACAA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491334874 has merged into rs5772238 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    1:6542175 (GRCh38)
                    1:6602235 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:6542163:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    NOL9 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTT=0./0 (ALFA)
                    T=0./0 (ALSPAC)
                    T=0./0 (TWINSUK)
                    T=0.0285/17 (NorthernSweden)
                    T=0.075/3 (GENOME_DK)
                    T=0.0807/404 (1000Genomes)
                    HGVS:
                    10.

                    rs1491292615 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      1:6537991 (GRCh38)
                      1:6598051 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:6537990:CA:
                      Gene:
                      NOL9 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.00347/51 (TOMMO)
                      HGVS:
                      11.

                      rs1491286399 has merged into rs796666090 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                        Chromosome:
                        1:6527647 (GRCh38)
                        1:6587707 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:6527639:AAAAAAAAAA:AAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:6527639:AAAAAAAAAA:AAAAAAAAAAAAA
                        Gene:
                        NOL9 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491267681 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->C [Show Flanks]
                          Chromosome:
                          1:6556384 (GRCh38)
                          1:6616445 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:6556384::C
                          Gene:
                          NOL9 (Varview), TAS1R1 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.00023/1 (ALFA)
                          C=0.0001/6 (GnomAD)
                          C=0.00023/1 (Estonian)
                          HGVS:
                          13.

                          rs1491211287 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->C [Show Flanks]
                            Chromosome:
                            1:6550684 (GRCh38)
                            1:6610745 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:6550684::C
                            Gene:
                            NOL9 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.00106/7 (GnomAD)
                            HGVS:
                            14.

                            rs1491188861 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TT>- [Show Flanks]
                              Chromosome:
                              1:6556385 (GRCh38)
                              1:6616445 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:6556383:TTT:T
                              Gene:
                              NOL9 (Varview), TAS1R1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.00008/1 (ALFA)
                              -=0.00094/6 (1000Genomes)
                              -=0.00107/42 (GnomAD)
                              HGVS:
                              15.

                              rs1491135983 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TGCA [Show Flanks]
                                Chromosome:
                                1:6544540 (GRCh38)
                                1:6604601 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:6544540:GCA:GCATGCA
                                Gene:
                                NOL9 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GCATGCA=0.00008/1 (ALFA)
                                GCAT=0.00055/5 (GnomAD)
                                HGVS:
                                16.

                                rs1491135555 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  1:6538018 (GRCh38)
                                  1:6598079 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:6538018:T:TT
                                  Gene:
                                  NOL9 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TT=0./0 (ALFA)
                                  T=0.000018/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491124446 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    1:6545919 (GRCh38)
                                    1:6605979 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:6545918:CA:
                                    Gene:
                                    NOL9 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0.00008/1 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490982797 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:6539119 (GRCh38)
                                      1:6599179 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:6539118:T:C
                                      Gene:
                                      NOL9 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1490903311 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:6552191 (GRCh38)
                                        1:6612251 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:6552190:C:T
                                        Gene:
                                        NOL9 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:

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