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Items: 1 to 20 of 1395

1.

rs1490665713 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:52815385 (GRCh38)
    X:52844409 (GRCh37)
    Canonical SPDI:
    NC_000023.11:52815384:C:T
    Gene:
    XAGE5 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000026/7 (TOPMED)
    HGVS:
    2.

    rs1490640447 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:52816907 (GRCh38)
      X:52845931 (GRCh37)
      Canonical SPDI:
      NC_000023.11:52816906:G:A
      Gene:
      XAGE5 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000019/2 (GnomAD)
      A=0.000076/20 (TOPMED)
      HGVS:
      3.

      rs1490176053 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:52814785 (GRCh38)
        X:52843809 (GRCh37)
        Canonical SPDI:
        NC_000023.11:52814784:T:C
        Gene:
        XAGE5 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490149811 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:52816243 (GRCh38)
          X:52845267 (GRCh37)
          Canonical SPDI:
          NC_000023.11:52816242:G:A
          Gene:
          XAGE5 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0./0 (GnomAD)
          A=0.000015/4 (TOPMED)
          A=0.00009/2 (TOMMO)
          HGVS:
          5.

          rs1489574414 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            X:52814099 (GRCh38)
            X:52843123 (GRCh37)
            Canonical SPDI:
            NC_000023.11:52814098:A:G
            Gene:
            XAGE5 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.00001/1 (GnomAD)
            G=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1489522026 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              X:52815575 (GRCh38)
              X:52844599 (GRCh37)
              Canonical SPDI:
              NC_000023.11:52815574:C:G
              Gene:
              XAGE5 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000142/2 (ALFA)
              G=0.000076/8 (GnomAD)
              G=0.000106/28 (TOPMED)
              HGVS:
              7.

              rs1489011052 has merged into rs371797802 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                X:52818601 (GRCh38)
                X:52847626 (GRCh37)
                Canonical SPDI:
                NC_000023.11:52818601:G:GG
                Gene:
                XAGE5 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GG=0.000142/2 (ALFA)
                G=0.000086/9 (GnomAD)
                G=0.000128/34 (TOPMED)
                HGVS:
                8.

                rs1488616128 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:52812659 (GRCh38)
                  X:52841683 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:52812658:T:C
                  Gene:
                  XAGE5 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1488590487 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    X:52813432 (GRCh38)
                    X:52842456 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:52813431:A:G
                    Gene:
                    XAGE5 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    G=0.00001/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488037673 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      X:52812262 (GRCh38)
                      X:52841286 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:52812261:T:A
                      Gene:
                      XAGE5 (Varview)
                      Functional Consequence:
                      intron_variant,splice_donor_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487986389 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:52813616 (GRCh38)
                        X:52842640 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:52813615:C:T
                        Gene:
                        XAGE5 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.00001/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487053269 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:52811719 (GRCh38)
                          X:52840743 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:52811718:G:A
                          Gene:
                          XAGE5 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487006559 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            X:52812964 (GRCh38)
                            X:52841988 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:52812963:A:C
                            Gene:
                            XAGE5 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.00003/8 (TOPMED)
                            HGVS:
                            14.

                            rs1486651848 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:52811578 (GRCh38)
                              X:52840602 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:52811577:G:A
                              Gene:
                              XAGE5 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.00001/1 (GnomAD)
                              A=0.000078/1 (TOMMO)
                              HGVS:
                              15.

                              rs1486598611 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:52812832 (GRCh38)
                                X:52841856 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:52812831:C:T
                                Gene:
                                XAGE5 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000029/3 (GnomAD)
                                T=0.000038/10 (TOPMED)
                                HGVS:
                                16.

                                rs1486023467 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:52812389 (GRCh38)
                                  X:52841413 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:52812388:C:T
                                  Gene:
                                  XAGE5 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000019/5 (TOPMED)
                                  T=0.000029/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485776028 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:52809780 (GRCh38)
                                    X:52838804 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:52809779:C:T
                                    Gene:
                                    XAGE5 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485088520 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      X:52815731 (GRCh38)
                                      X:52844755 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:52815730:A:G
                                      Gene:
                                      XAGE5 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1485086444 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        X:52810661 (GRCh38)
                                        X:52839685 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:52810660:C:A,NC_000023.11:52810660:C:T
                                        Gene:
                                        XAGE5 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000019/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1484104467 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:52809985 (GRCh38)
                                          X:52839009 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:52809984:G:A
                                          Gene:
                                          XAGE5 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          G=0./0 (SGDP_PRJ)
                                          A=0.000039/4 (GnomAD)
                                          A=0.000057/15 (TOPMED)
                                          HGVS:

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