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Items: 1 to 20 of 3864

1.

rs1491086730 has merged into rs11419805 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
    Chromosome:
    X:39310830 (GRCh38)
    X:39170084 (GRCh37)
    Canonical SPDI:
    NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:39310817:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
    Gene:
    LINC01281 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    T=0.30305/1144 (1000Genomes)
    HGVS:
    2.

    rs1490860530 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      X:39304981 (GRCh38)
      X:39164235 (GRCh37)
      Canonical SPDI:
      NC_000023.11:39304980:G:A,NC_000023.11:39304980:G:C
      Gene:
      LINC01281 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1490778209 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:39315363 (GRCh38)
        X:39174617 (GRCh37)
        Canonical SPDI:
        NC_000023.11:39315362:C:T
        Gene:
        LINC01281 (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:
        4.

        rs1490734928 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          X:39304793 (GRCh38)
          X:39164047 (GRCh37)
          Canonical SPDI:
          NC_000023.11:39304792:G:C
          Gene:
          LINC01281 (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1490613624 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            X:39316119 (GRCh38)
            X:39175373 (GRCh37)
            Canonical SPDI:
            NC_000023.11:39316118:G:T
            Gene:
            LINC01281 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000084/1 (ALFA)
            T=0.000029/3 (GnomAD)
            T=0.000083/22 (TOPMED)
            HGVS:
            6.

            rs1490075524 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:39327956 (GRCh38)
              X:39187210 (GRCh37)
              Canonical SPDI:
              NC_000023.11:39327955:G:A
              Gene:
              LINC01281 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000019/2 (GnomAD)
              A=0.000023/6 (TOPMED)
              HGVS:
              7.

              rs1490027091 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                X:39326657 (GRCh38)
                X:39185911 (GRCh37)
                Canonical SPDI:
                NC_000023.11:39326656:C:T
                Gene:
                LINC01281 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.00001/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1489911331 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:39328597 (GRCh38)
                  X:39187851 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:39328596:G:A
                  Gene:
                  LINC01281 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1489878056 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    X:39306210 (GRCh38)
                    X:39165464 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:39306209:AAAA:AAA
                    Gene:
                    LINC01281 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAA=0./0 (ALFA)
                    -=0.00001/1 (GnomAD)
                    -=0.000034/9 (TOPMED)
                    HGVS:
                    10.

                    rs1489810869 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:39315204 (GRCh38)
                      X:39174458 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:39315203:G:A
                      Gene:
                      LINC01281 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      A=0.00001/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489749138 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        X:39324138 (GRCh38)
                        X:39183392 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:39324137:T:G
                        Gene:
                        LINC01281 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1489467319 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:39317397 (GRCh38)
                          X:39176651 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:39317396:T:C
                          Gene:
                          LINC01281 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1489103673 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            X:39322517 (GRCh38)
                            X:39181771 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:39322516:C:G
                            Gene:
                            LINC01281 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1489057924 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:39317553 (GRCh38)
                              X:39176807 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:39317552:C:T
                              Gene:
                              LINC01281 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.00001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488951000 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                X:39320675 (GRCh38)
                                X:39179929 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:39320674:G:A
                                Gene:
                                LINC01281 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000019/2 (GnomAD)
                                HGVS:
                                16.

                                rs1488818983 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:39313188 (GRCh38)
                                  X:39172442 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:39313187:G:A
                                  Gene:
                                  LINC01281 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488720812 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    X:39328682 (GRCh38)
                                    X:39187936 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:39328681:C:A
                                    Gene:
                                    LINC01281 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000019/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488597340 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:39313003 (GRCh38)
                                      X:39172257 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:39313002:C:T
                                      Gene:
                                      LINC01281 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00001/1 (GnomAD)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000208/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1488484776 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        X:39311550 (GRCh38)
                                        X:39170804 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:39311549:G:A,NC_000023.11:39311549:G:C
                                        Gene:
                                        LINC01281 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        C=0.00001/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        A=0.00018/2 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1488402774 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:39329140 (GRCh38)
                                          X:39188394 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:39329139:T:C
                                          Gene:
                                          LINC01281 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.00001/1 (GnomAD)
                                          HGVS:

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