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Links from Gene

Items: 1 to 20 of 2965

1.

rs1491444668 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    X:27821115 (GRCh38)
    X:27839233 (GRCh37)
    Canonical SPDI:
    NC_000023.11:27821115:GGGGG:GGGGGG
    Gene:
    MAGEB10 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGG=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000019/2 (GnomAD)
    HGVS:
    2.

    rs1491282842 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      X:27821115 (GRCh38)
      X:27839232 (GRCh37)
      Canonical SPDI:
      NC_000023.11:27821114:AG:
      Gene:
      MAGEB10 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.000142/2 (ALFA)
      -=0.000023/6 (TOPMED)
      HGVS:
      3.

      rs1490991529 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TCCAACCCCGCCAGCCCCCCCCAACCCCGCCAGCCCCC>-,TCCAACCCCGCCAGCCCCCCCCAACCCCGCCAGCCCCCTCCAACCCCGCCAGCCCCCCCCAACCCCGCCAGCCCCC [Show Flanks]
        Chromosome:
        X:27809402 (GRCh38)
        X:27827519 (GRCh37)
        Canonical SPDI:
        NC_000023.11:27809378:CCCCCCCAACCCCGCCAGCCCCCTCCAACCCCGCCAGCCCCCCCCAACCCCGCCAGCCCCC:CCCCCCCAACCCCGCCAGCCCCC,NC_000023.11:27809378:CCCCCCCAACCCCGCCAGCCCCCTCCAACCCCGCCAGCCCCCCCCAACCCCGCCAGCCCCC:CCCCCCCAACCCCGCCAGCCCCCTCCAACCCCGCCAGCCCCCCCCAACCCCGCCAGCCCCCTCCAACCCCGCCAGCCCCCCCCAACCCCGCCAGCCCCC
        Gene:
        MAGEB10 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CCCCCCCAACCCCGCCAGCCCCC=0.00185/22 (ALFA)
        CCCCCCCAACCCCGCCAGCCCCCTCCAACCCCGCCAGC=0.0001/1 (TOMMO)
        -=0.00676/138 (GnomAD)
        HGVS:
        4.

        rs1490985599 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:27809685 (GRCh38)
          X:27827802 (GRCh37)
          Canonical SPDI:
          NC_000023.11:27809684:C:T
          Gene:
          MAGEB10 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.00003/8 (TOPMED)
          T=0.000036/3 (GnomAD)
          T=0.000045/1 (TOMMO)
          T=0.016955/49 (KOREAN)
          HGVS:
          5.

          rs1490960508 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            X:27807819 (GRCh38)
            X:27825936 (GRCh37)
            Canonical SPDI:
            NC_000023.11:27807818:C:A
            Gene:
            MAGEB10 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000009/1 (GnomAD)
            HGVS:
            6.

            rs1490589638 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:27820305 (GRCh38)
              X:27838422 (GRCh37)
              Canonical SPDI:
              NC_000023.11:27820304:C:T
              Gene:
              MAGEB10 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000342/1 (KOREAN)
              HGVS:
              7.

              rs1490175030 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GG>- [Show Flanks]
                Chromosome:
                X:27809482 (GRCh38)
                X:27827599 (GRCh37)
                Canonical SPDI:
                NC_000023.11:27809481:GG:
                Gene:
                MAGEB10 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.00088/3 (TOMMO)
                HGVS:
                8.

                rs1489959729 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  X:27812518 (GRCh38)
                  X:27830635 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:27812517:G:A,NC_000023.11:27812517:G:T
                  Gene:
                  MAGEB10 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000019/2 (GnomAD)
                  A=0.000045/1 (TOMMO)
                  HGVS:
                  9.

                  rs1489628586 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    X:27819303 (GRCh38)
                    X:27837420 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:27819302:T:C
                    Gene:
                    MAGEB10 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1489126402 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:27823511 (GRCh38)
                      X:27841628 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:27823510:T:C
                      Gene:
                      MAGEB10 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1488856551 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:27816935 (GRCh38)
                        X:27835052 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:27816934:C:T
                        Gene:
                        MAGEB10 (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.

                        rs1488517709 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          X:27818186 (GRCh38)
                          X:27836303 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:27818185:C:A
                          Gene:
                          MAGEB10 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488340031 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            X:27816093 (GRCh38)
                            X:27834210 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:27816092:T:A
                            Gene:
                            MAGEB10 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1488215419 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              X:27812000 (GRCh38)
                              X:27830117 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:27811999:C:A
                              Gene:
                              MAGEB10 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1488110067 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                X:27810311 (GRCh38)
                                X:27828428 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:27810310:A:G
                                Gene:
                                MAGEB10 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000019/2 (GnomAD)
                                G=0.000038/10 (TOPMED)
                                G=0.000208/1 (1000Genomes)
                                G=0.000675/9 (TOMMO)
                                G=0.002396/7 (KOREAN)
                                HGVS:
                                16.

                                rs1487984032 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:27807721 (GRCh38)
                                  X:27825838 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:27807720:C:T
                                  Gene:
                                  MAGEB10 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487856019 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    X:27822645 (GRCh38)
                                    X:27840762 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:27822644:G:A
                                    Gene:
                                    MAGEB10 (Varview)
                                    Functional Consequence:
                                    3_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=0.000045/1 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1487852711 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:27806601 (GRCh38)
                                      X:27824718 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:27806600:T:C
                                      Gene:
                                      MAGEB10 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487184884 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        X:27817750 (GRCh38)
                                        X:27835867 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:27817749:T:C
                                        Gene:
                                        MAGEB10 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000208/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs1487021807 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:27823444 (GRCh38)
                                          X:27841561 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:27823443:T:C
                                          Gene:
                                          MAGEB10 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_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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