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1.

rs1491488132 has merged into rs139200050 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
    Chromosome:
    18:47025519 (GRCh38)
    18:44551890 (GRCh37)
    Canonical SPDI:
    NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
    Gene:
    KATNAL2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
    -=0.175/7 (GENOME_DK)
    HGVS:
    NC_000018.10:g.47025503GT[8], NC_000018.10:g.47025503GT[10], NC_000018.10:g.47025503GT[11], NC_000018.10:g.47025503GT[12], NC_000018.10:g.47025503GT[13], NC_000018.10:g.47025503GT[14], NC_000018.10:g.47025503GT[15], NC_000018.10:g.47025503GT[16], NC_000018.10:g.47025503GT[17], NC_000018.10:g.47025503GT[18], NC_000018.10:g.47025503GT[19], NC_000018.10:g.47025503GT[20], NC_000018.10:g.47025503GT[21], NC_000018.10:g.47025503GT[22], NC_000018.10:g.47025503GT[24], NC_000018.10:g.47025503GT[25], NC_000018.10:g.47025503GT[26], NC_000018.9:g.44551874GT[8], NC_000018.9:g.44551874GT[10], NC_000018.9:g.44551874GT[11], NC_000018.9:g.44551874GT[12], NC_000018.9:g.44551874GT[13], NC_000018.9:g.44551874GT[14], NC_000018.9:g.44551874GT[15], NC_000018.9:g.44551874GT[16], NC_000018.9:g.44551874GT[17], NC_000018.9:g.44551874GT[18], NC_000018.9:g.44551874GT[19], NC_000018.9:g.44551874GT[20], NC_000018.9:g.44551874GT[21], NC_000018.9:g.44551874GT[22], NC_000018.9:g.44551874GT[24], NC_000018.9:g.44551874GT[25], NC_000018.9:g.44551874GT[26]
    2.

    rs1491454018 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      18:47025502 (GRCh38)
      18:44551873 (GRCh37)
      Canonical SPDI:
      NC_000018.10:47025501:AG:
      Gene:
      KATNAL2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00051/6 (ALFA)
      -=0.00004/1 (TOMMO)
      HGVS:
      3.

      rs1490997808 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        18:47025448 (GRCh38)
        18:44551819 (GRCh37)
        Canonical SPDI:
        NC_000018.10:47025447:C:T
        Gene:
        KATNAL2 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000061/1 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000071/2 (TOMMO)
        HGVS:
        4.

        rs1490179389 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          18:47024725 (GRCh38)
          18:44551096 (GRCh37)
          Canonical SPDI:
          NC_000018.10:47024724:T:C
          Gene:
          KATNAL2 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.00002/1 (GnomAD)
          HGVS:
          5.

          rs1489146446 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            18:47025009 (GRCh38)
            18:44551380 (GRCh37)
            Canonical SPDI:
            NC_000018.10:47025008:C:T
            Gene:
            KATNAL2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000009/1 (GnomAD)
            HGVS:
            6.

            rs1488712021 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              18:47024568 (GRCh38)
              18:44550939 (GRCh37)
              Canonical SPDI:
              NC_000018.10:47024567:A:G
              Gene:
              KATNAL2 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.00051/6 (ALFA)
              G=0.01317/59 (TOMMO)
              HGVS:
              7.

              rs1488261820 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                18:47025647 (GRCh38)
                18:44552018 (GRCh37)
                Canonical SPDI:
                NC_000018.10:47025646:A:G
                Gene:
                KATNAL2 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.01171/34 (KOREAN)
                HGVS:
                8.

                rs1488129431 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  18:47022385 (GRCh38)
                  18:-1 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:47022384:CC:C
                  Gene:
                  KATNAL2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CC=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1487553461 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    18:47025473 (GRCh38)
                    18:44551844 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:47025472:T:A,NC_000018.10:47025472:T:C
                    Gene:
                    KATNAL2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1483878898 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      18:47022834 (GRCh38)
                      18:-1 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:47022833:G:A
                      Gene:
                      KATNAL2 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.00008/1 (ALFA)
                      A=0.00012/11 (GnomAD)
                      HGVS:
                      11.

                      rs1483128471 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        18:47025156 (GRCh38)
                        18:44551527 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:47025155:C:T
                        Gene:
                        KATNAL2 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1482019049 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          18:47023019 (GRCh38)
                          18:-1 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:47023018:T:C
                          Gene:
                          KATNAL2 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1481457803 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            18:47025346 (GRCh38)
                            18:44551717 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:47025345:C:A
                            Gene:
                            KATNAL2 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.0002/1 (ALFA)
                            HGVS:
                            14.

                            rs1481179152 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              18:47025338 (GRCh38)
                              18:44551709 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:47025337:A:G,NC_000018.10:47025337:A:T
                              Gene:
                              KATNAL2 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.00068/11 (ALFA)
                              A=0.5/2 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1479686911 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                18:47025644 (GRCh38)
                                18:44552015 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:47025643:G:C
                                Gene:
                                KATNAL2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.01066/31 (KOREAN)
                                HGVS:
                                16.

                                rs1479143310 has merged into rs139200050 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                                  Chromosome:
                                  18:47025519 (GRCh38)
                                  18:44551890 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000018.10:47025502:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                                  Gene:
                                  KATNAL2 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                                  -=0.175/7 (GENOME_DK)
                                  HGVS:
                                  NC_000018.10:g.47025503GT[8], NC_000018.10:g.47025503GT[10], NC_000018.10:g.47025503GT[11], NC_000018.10:g.47025503GT[12], NC_000018.10:g.47025503GT[13], NC_000018.10:g.47025503GT[14], NC_000018.10:g.47025503GT[15], NC_000018.10:g.47025503GT[16], NC_000018.10:g.47025503GT[17], NC_000018.10:g.47025503GT[18], NC_000018.10:g.47025503GT[19], NC_000018.10:g.47025503GT[20], NC_000018.10:g.47025503GT[21], NC_000018.10:g.47025503GT[22], NC_000018.10:g.47025503GT[24], NC_000018.10:g.47025503GT[25], NC_000018.10:g.47025503GT[26], NC_000018.9:g.44551874GT[8], NC_000018.9:g.44551874GT[10], NC_000018.9:g.44551874GT[11], NC_000018.9:g.44551874GT[12], NC_000018.9:g.44551874GT[13], NC_000018.9:g.44551874GT[14], NC_000018.9:g.44551874GT[15], NC_000018.9:g.44551874GT[16], NC_000018.9:g.44551874GT[17], NC_000018.9:g.44551874GT[18], NC_000018.9:g.44551874GT[19], NC_000018.9:g.44551874GT[20], NC_000018.9:g.44551874GT[21], NC_000018.9:g.44551874GT[22], NC_000018.9:g.44551874GT[24], NC_000018.9:g.44551874GT[25], NC_000018.9:g.44551874GT[26]
                                  17.

                                  rs1478710694 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TCCCCCCCCCA>- [Show Flanks]
                                    Chromosome:
                                    18:47025097 (GRCh38)
                                    18:44551468 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:47025096:TCCCCCCCCCA:
                                    Gene:
                                    KATNAL2 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.00008/1 (ALFA)
                                    -=0.02244/153 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1477731729 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      18:47022773 (GRCh38)
                                      18:-1 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:47022772:G:A
                                      Gene:
                                      KATNAL2 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.00016/14 (GnomAD)
                                      A=0.00078/5 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1474263991 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        18:47025114 (GRCh38)
                                        18:44551485 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:47025113:C:A,NC_000018.10:47025113:C:T
                                        Gene:
                                        KATNAL2 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.00011/1 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1471142446 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          T>A
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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