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Items: 1 to 20 of 18605

1.

rs9865242 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    3:112923721 (GRCh38)
    3:112642568 (GRCh37)
    Canonical SPDI:
    NC_000003.12:112923720:C:G,NC_000003.12:112923720:C:T
    Gene:
    CD200R1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.456006/51816 (ALFA)
    C=0.25/12 (Siberian)
    C=0.273606/4585 (TOMMO)
    C=0.276596/130 (SGDP_PRJ)
    C=0.311681/571 (Korea1K)
    C=0.315447/194 (Vietnamese)
    C=0.320137/938 (KOREAN)
    C=0.330128/103 (HapMap)
    C=0.347716/274 (PRJEB37584)
    C=0.34822/1744 (1000Genomes)
    C=0.363075/28574 (PAGE_STUDY)
    C=0.406268/107535 (TOPMED)
    C=0.413747/57798 (GnomAD)
    C=0.416039/5411 (GoESP)
    C=0.425/17 (GENOME_DK)
    C=0.426854/426 (GoNL)
    C=0.429582/51884 (ExAC)
    C=0.434152/1945 (Estonian)
    C=0.436694/107439 (GnomAD_exomes)
    C=0.455371/1755 (ALSPAC)
    C=0.464401/1722 (TWINSUK)
    C=0.468333/281 (NorthernSweden)
    C=0.479401/256 (MGP)
    C=0.481481/104 (Qatari)
    C=0.490132/149 (FINRISK)
    HGVS:
    2.

    rs72952157 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      3:112975558 (GRCh38)
      3:112694405 (GRCh37)
      Canonical SPDI:
      NC_000003.12:112975557:A:G,NC_000003.12:112975557:A:T
      Gene:
      CD200R1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.073088/1365 (ALFA)
      G=0.063393/284 (Estonian)
      G=0.068136/68 (GoNL)
      G=0.076667/46 (NorthernSweden)
      G=0.079827/296 (TWINSUK)
      G=0.080695/311 (ALSPAC)
      G=0.085112/11929 (GnomAD)
      G=0.089255/23625 (TOPMED)
      G=0.125/5 (GENOME_DK)
      G=0.130387/653 (1000Genomes)
      G=0.166667/36 (Qatari)
      G=0.200935/43 (Vietnamese)
      G=0.204096/598 (KOREAN)
      G=0.218345/3659 (TOMMO)
      G=0.224891/412 (Korea1K)
      A=0.416667/10 (Siberian)
      A=0.43662/62 (SGDP_PRJ)
      HGVS:
      3.

      rs58650611 has merged into rs9865242 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        3:112923721 (GRCh38)
        3:112642568 (GRCh37)
        Canonical SPDI:
        NC_000003.12:112923720:C:G,NC_000003.12:112923720:C:T
        Gene:
        CD200R1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.456006/51816 (ALFA)
        C=0.25/12 (Siberian)
        C=0.273606/4585 (TOMMO)
        C=0.276596/130 (SGDP_PRJ)
        C=0.311681/571 (Korea1K)
        C=0.315447/194 (Vietnamese)
        C=0.320137/938 (KOREAN)
        C=0.330128/103 (HapMap)
        C=0.347716/274 (PRJEB37584)
        C=0.34822/1744 (1000Genomes)
        C=0.363075/28574 (PAGE_STUDY)
        C=0.406268/107535 (TOPMED)
        C=0.413747/57798 (GnomAD)
        C=0.416039/5411 (GoESP)
        C=0.425/17 (GENOME_DK)
        C=0.426854/426 (GoNL)
        C=0.429582/51884 (ExAC)
        C=0.434152/1945 (Estonian)
        C=0.436694/107439 (GnomAD_exomes)
        C=0.455371/1755 (ALSPAC)
        C=0.464401/1722 (TWINSUK)
        C=0.468333/281 (NorthernSweden)
        C=0.479401/256 (MGP)
        C=0.481481/104 (Qatari)
        C=0.490132/149 (FINRISK)
        HGVS:
        4.

        rs1016348 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          3:112929759 (GRCh38)
          3:112648606 (GRCh37)
          Canonical SPDI:
          NC_000003.12:112929758:T:A,NC_000003.12:112929758:T:C
          Gene:
          CD200R1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.443893/12334 (ALFA)
          T=0.272727/12 (Siberian)
          T=0.273586/4585 (TOMMO)
          T=0.276596/130 (SGDP_PRJ)
          T=0.311135/570 (Korea1K)
          T=0.32116/941 (KOREAN)
          T=0.32243/69 (Vietnamese)
          T=0.329032/102 (HapMap)
          T=0.348064/1743 (1000Genomes)
          T=0.4/16 (GENOME_DK)
          T=0.406321/107549 (TOPMED)
          T=0.413513/57795 (GnomAD)
          T=0.426854/426 (GoNL)
          T=0.433482/1942 (Estonian)
          T=0.454333/1751 (ALSPAC)
          T=0.46521/1725 (TWINSUK)
          T=0.468333/281 (NorthernSweden)
          T=0.481481/104 (Qatari)
          HGVS:
          5.

          rs1032726 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C,G [Show Flanks]
            Chromosome:
            3:112967228 (GRCh38)
            3:112686075 (GRCh37)
            Canonical SPDI:
            NC_000003.12:112967227:T:A,NC_000003.12:112967227:T:C,NC_000003.12:112967227:T:G
            Gene:
            CD200R1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.469441/27221 (ALFA)
            G=0./0 (KOREAN)
            C=0.314815/68 (Qatari)
            T=0.330645/123 (SGDP_PRJ)
            T=0.352941/12 (Siberian)
            C=0.458421/64112 (GnomAD)
            C=0.461789/122231 (TOPMED)
            C=0.465/279 (NorthernSweden)
            C=0.466463/153 (HapMap)
            C=0.466828/1731 (TWINSUK)
            C=0.469432/860 (Korea1K)
            C=0.475/19 (GENOME_DK)
            C=0.478723/1845 (ALSPAC)
            C=0.480637/2407 (1000Genomes)
            T=0.484995/8129 (TOMMO)
            C=0.485981/104 (Vietnamese)
            T=0.491984/491 (GoNL)
            T=0.492188/2205 (Estonian)
            HGVS:
            6.

            rs1154267 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G,T [Show Flanks]
              Chromosome:
              3:112970057 (GRCh38)
              3:112688904 (GRCh37)
              Canonical SPDI:
              NC_000003.12:112970056:A:G,NC_000003.12:112970056:A:T
              Gene:
              CD200R1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1154268 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G,T [Show Flanks]
                Chromosome:
                3:112958962 (GRCh38)
                3:112677809 (GRCh37)
                Canonical SPDI:
                NC_000003.12:112958961:A:C,NC_000003.12:112958961:A:G,NC_000003.12:112958961:A:T
                Gene:
                CD200R1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000111/4 (ALFA)
                A=0./0 (ALSPAC)
                A=0./0 (GENOME_DK)
                C=0./0 (KOREAN)
                A=0./0 (Korea1K)
                A=0./0 (NorthernSweden)
                A=0./0 (Qatari)
                A=0./0 (SGDP_PRJ)
                A=0./0 (Siberian)
                A=0./0 (TWINSUK)
                A=0./0 (Vietnamese)
                A=0.000035/1 (TOMMO)
                A=0.000106/28 (TOPMED)
                A=0.000114/16 (GnomAD)
                A=0.000156/1 (1000Genomes)
                A=0.001002/1 (GoNL)
                HGVS:
                8.

                rs1154269 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:112955859 (GRCh38)
                  3:112674706 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:112955858:G:A
                  Gene:
                  CD200R1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by cluster
                  HGVS:
                  9.

                  rs1156147 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:112970386 (GRCh38)
                    3:112689233 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:112970385:T:C
                    Gene:
                    CD200R1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.035902/682 (ALFA)
                    C=0.013889/3 (Qatari)
                    C=0.015244/5 (HapMap)
                    C=0.028558/479 (TOMMO)
                    C=0.030022/55 (Korea1K)
                    C=0.031655/122 (ALSPAC)
                    C=0.034223/4798 (GnomAD)
                    C=0.036677/136 (TWINSUK)
                    C=0.03935/197 (1000Genomes)
                    C=0.039881/10556 (TOPMED)
                    C=0.040041/117 (KOREAN)
                    C=0.042084/42 (GoNL)
                    C=0.045/27 (NorthernSweden)
                    C=0.046875/210 (Estonian)
                    C=0.05/2 (GENOME_DK)
                    C=0.065421/14 (Vietnamese)
                    T=0.325/13 (SGDP_PRJ)
                    T=0.5/2 (Siberian)
                    HGVS:
                    10.

                    rs1159034 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      3:112925592 (GRCh38)
                      3:112644439 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:112925591:A:C
                      Gene:
                      CD200R1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.00019/2 (ALFA)
                      C=0./0 (HapMap)
                      HGVS:
                      11.

                      rs1159035 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        3:112925586 (GRCh38)
                        3:112644433 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:112925585:G:T
                        Gene:
                        CD200R1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        HGVS:
                        12.

                        rs1392785 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          3:112970690 (GRCh38)
                          3:112689537 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:112970689:T:C,NC_000003.12:112970689:T:G
                          Gene:
                          CD200R1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.462404/30699 (ALFA)
                          T=0.323684/123 (SGDP_PRJ)
                          C=0.333333/14 (PRJEB36033)
                          C=0.337963/73 (Qatari)
                          T=0.352941/12 (Siberian)
                          C=0.464971/969 (HGDP_Stanford)
                          C=0.465/279 (NorthernSweden)
                          C=0.467725/884 (HapMap)
                          C=0.469432/860 (Korea1K)
                          C=0.471963/101 (Vietnamese)
                          C=0.472137/124970 (TOPMED)
                          C=0.475/19 (GENOME_DK)
                          C=0.477886/1772 (TWINSUK)
                          T=0.477956/477 (GoNL)
                          C=0.478498/1402 (KOREAN)
                          T=0.483863/8110 (TOMMO)
                          T=0.4875/2184 (Estonian)
                          C=0.487545/1879 (ALSPAC)
                          C=0.492505/2466 (1000Genomes)
                          HGVS:
                          13.

                          rs1392786 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C,G [Show Flanks]
                            Chromosome:
                            3:112947695 (GRCh38)
                            3:112666542 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:112947694:T:C,NC_000003.12:112947694:T:G
                            Gene:
                            CD200R1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.409317/7732 (ALFA)
                            T=0.25/12 (Siberian)
                            T=0.265589/4451 (TOMMO)
                            T=0.274468/129 (SGDP_PRJ)
                            T=0.305677/560 (Korea1K)
                            T=0.316038/67 (Vietnamese)
                            T=0.316456/100 (HapMap)
                            T=0.317406/930 (KOREAN)
                            T=0.324329/1624 (1000Genomes)
                            T=0.381265/100917 (TOPMED)
                            T=0.390053/54616 (GnomAD)
                            T=0.3998/399 (GoNL)
                            T=0.4/16 (GENOME_DK)
                            T=0.420861/1622 (ALSPAC)
                            T=0.422098/1891 (Estonian)
                            T=0.435185/94 (Qatari)
                            T=0.436893/1620 (TWINSUK)
                            T=0.448333/269 (NorthernSweden)
                            HGVS:
                            14.

                            rs1466872 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C,G [Show Flanks]
                              Chromosome:
                              3:112928766 (GRCh38)
                              3:112647613 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:112928765:T:A,NC_000003.12:112928765:T:C,NC_000003.12:112928765:T:G
                              Gene:
                              CD200R1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.436277/11776 (ALFA)
                              T=0.25/12 (Siberian)
                              T=0.268908/128 (SGDP_PRJ)
                              T=0.271852/4556 (TOMMO)
                              T=0.310044/568 (Korea1K)
                              T=0.31843/933 (KOREAN)
                              T=0.320581/1605 (1000Genomes)
                              T=0.328704/71 (Vietnamese)
                              T=0.383989/101638 (TOPMED)
                              T=0.384064/4873 (GoESP)
                              T=0.392482/54909 (GnomAD)
                              T=0.399896/32254 (ExAC)
                              T=0.4/16 (GENOME_DK)
                              T=0.410532/75491 (GnomAD_exomes)
                              T=0.410822/410 (GoNL)
                              T=0.426753/1911 (Estonian)
                              T=0.433057/1669 (ALSPAC)
                              T=0.440669/1634 (TWINSUK)
                              T=0.461667/277 (NorthernSweden)
                              T=0.472222/102 (Qatari)
                              T=0.49/147 (FINRISK)
                              HGVS:
                              15.

                              rs1466873 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                3:112927468 (GRCh38)
                                3:112646315 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:112927467:T:A
                                Gene:
                                CD200R1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.036421/688 (ALFA)
                                A=0.011667/7 (NorthernSweden)
                                A=0.025/1 (GENOME_DK)
                                A=0.032407/7 (Qatari)
                                A=0.03425/132 (ALSPAC)
                                A=0.035729/5010 (GnomAD)
                                A=0.038839/174 (Estonian)
                                A=0.039185/10372 (TOPMED)
                                A=0.041082/41 (GoNL)
                                A=0.04342/161 (TWINSUK)
                                A=0.059061/73 (HapMap)
                                A=0.077452/388 (1000Genomes)
                                A=0.156655/459 (KOREAN)
                                A=0.164847/302 (Korea1K)
                                A=0.165652/2776 (TOMMO)
                                A=0.233645/50 (Vietnamese)
                                T=0.430233/37 (SGDP_PRJ)
                                T=0.5/4 (Siberian)
                                HGVS:
                                16.

                                rs1488188 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  3:112931780 (GRCh38)
                                  3:112650627 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:112931779:C:G
                                  Gene:
                                  CD200R1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.026628/503 (ALFA)
                                  G=0.009259/2 (Qatari)
                                  G=0.011667/7 (NorthernSweden)
                                  G=0.025/1 (GENOME_DK)
                                  G=0.025694/3597 (GnomAD)
                                  G=0.026207/101 (ALSPAC)
                                  G=0.028056/28 (GoNL)
                                  G=0.028509/7546 (TOPMED)
                                  G=0.031014/115 (TWINSUK)
                                  G=0.034598/155 (Estonian)
                                  G=0.053248/267 (1000Genomes)
                                  G=0.063636/21 (HapMap)
                                  G=0.156655/459 (KOREAN)
                                  G=0.164847/302 (Korea1K)
                                  G=0.165511/2774 (TOMMO)
                                  G=0.237864/49 (Vietnamese)
                                  C=0.431034/25 (SGDP_PRJ)
                                  C=0.5/4 (Siberian)
                                  HGVS:
                                  17.

                                  rs1488193 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G,T [Show Flanks]
                                    Chromosome:
                                    3:112962738 (GRCh38)
                                    3:112681585 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:112962737:A:C,NC_000003.12:112962737:A:G,NC_000003.12:112962737:A:T
                                    Gene:
                                    CD200R1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.072324/17936 (ALFA)
                                    T=0./0 (KOREAN)
                                    A=0.050926/11 (Qatari)
                                    A=0.06261/71 (Daghestan)
                                    A=0.063126/63 (GoNL)
                                    A=0.064725/240 (TWINSUK)
                                    A=0.065/39 (NorthernSweden)
                                    A=0.070576/272 (ALSPAC)
                                    A=0.075/3 (GENOME_DK)
                                    A=0.086437/22879 (TOPMED)
                                    A=0.088678/12431 (GnomAD)
                                    A=0.098661/442 (Estonian)
                                    A=0.107664/59 (SGDP_PRJ)
                                    A=0.111337/558 (1000Genomes)
                                    A=0.111398/8767 (PAGE_STUDY)
                                    A=0.120106/227 (HapMap)
                                    A=0.138329/288 (HGDP_Stanford)
                                    A=0.146341/12 (PRJEB36033)
                                    A=0.178571/10 (Siberian)
                                    A=0.247116/4142 (TOMMO)
                                    A=0.25/53 (Vietnamese)
                                    A=0.295455/234 (PRJEB37584)
                                    HGVS:
                                    18.

                                    rs1566515 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      3:112931373 (GRCh38)
                                      3:112650220 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:112931372:C:A
                                      Gene:
                                      CD200R1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      C=0.03571/3 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1601843 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:112951020 (GRCh38)
                                        3:112669867 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:112951019:A:G
                                        Gene:
                                        CD200R1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.026734/505 (ALFA)
                                        G=0.009259/2 (Qatari)
                                        G=0.011667/7 (NorthernSweden)
                                        G=0.025/1 (GENOME_DK)
                                        G=0.025923/3634 (GnomAD)
                                        G=0.025947/100 (ALSPAC)
                                        G=0.028056/28 (GoNL)
                                        G=0.028845/7635 (TOPMED)
                                        G=0.031014/115 (TWINSUK)
                                        G=0.034598/155 (Estonian)
                                        G=0.054029/271 (1000Genomes)
                                        G=0.156655/459 (KOREAN)
                                        G=0.164847/302 (Korea1K)
                                        G=0.165274/2770 (TOMMO)
                                        G=0.219626/47 (Vietnamese)
                                        A=0.431034/25 (SGDP_PRJ)
                                        A=0.5/4 (Siberian)
                                        HGVS:
                                        20.

                                        rs1604247 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:112935124 (GRCh38)
                                          3:112653971 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:112935123:A:G
                                          Gene:
                                          CD200R1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.02/487 (ALFA)
                                          G=0.001699/28 (TOMMO)
                                          G=0.002053/6 (KOREAN)
                                          G=0.002183/4 (Korea1K)
                                          G=0.008705/39 (Estonian)
                                          G=0.009259/2 (Qatari)
                                          G=0.01/6 (NorthernSweden)
                                          G=0.016032/16 (GoNL)
                                          G=0.020859/2926 (GnomAD)
                                          G=0.021277/82 (ALSPAC)
                                          G=0.02192/5802 (TOPMED)
                                          G=0.022384/83 (TWINSUK)
                                          G=0.025/1 (GENOME_DK)
                                          G=0.027483/138 (1000Genomes)
                                          G=0.042916/63 (HapMap)
                                          A=0.5/8 (SGDP_PRJ)
                                          HGVS:

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