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Links from Gene

Items: 1 to 20 of 798

1.

rs1489454366 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    X:30244265 (GRCh38)
    X:30262382 (GRCh37)
    Canonical SPDI:
    NC_000023.11:30244264:C:G
    Gene:
    MAGEB1 (Varview), MAGEB4 (Varview)
    Functional Consequence:
    intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000029/3 (GnomAD)
    G=0.00003/8 (TOPMED)
    HGVS:
    2.

    rs1487985036 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      X:30244085 (GRCh38)
      X:30262202 (GRCh37)
      Canonical SPDI:
      NC_000023.11:30244084:C:A
      Gene:
      MAGEB1 (Varview), MAGEB4 (Varview)
      Functional Consequence:
      intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.00001/1 (GnomAD)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1486121812 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        X:30240501 (GRCh38)
        X:30258618 (GRCh37)
        Canonical SPDI:
        NC_000023.11:30240500:T:G
        Gene:
        MAGEB4 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1485987762 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:30241029 (GRCh38)
          X:30259146 (GRCh37)
          Canonical SPDI:
          NC_000023.11:30241028:A:G
          Gene:
          MAGEB4 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1485522989 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            X:30241393 (GRCh38)
            X:30259510 (GRCh37)
            Canonical SPDI:
            NC_000023.11:30241392:T:C
            Gene:
            MAGEB4 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1483520127 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              X:30243610 (GRCh38)
              X:30261727 (GRCh37)
              Canonical SPDI:
              NC_000023.11:30243609:C:A
              Gene:
              MAGEB1 (Varview), MAGEB4 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000019/2 (GnomAD)
              HGVS:
              7.

              rs1482928934 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                X:30244434 (GRCh38)
                X:30262551 (GRCh37)
                Canonical SPDI:
                NC_000023.11:30244433:C:A
                Gene:
                MAGEB1 (Varview), MAGEB4 (Varview)
                Functional Consequence:
                intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000026/7 (TOPMED)
                A=0.000048/5 (GnomAD)
                HGVS:
                8.

                rs1481572910 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  X:30242238 (GRCh38)
                  X:30260355 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:30242237:A:C
                  Gene:
                  MAGEB1 (Varview), MAGEB4 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_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:
                  9.

                  rs1480257712 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    X:30242809 (GRCh38)
                    X:30260926 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:30242808:A:G
                    Gene:
                    MAGEB1 (Varview), MAGEB4 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_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.

                    rs1477144475 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:30243430 (GRCh38)
                      X:30261547 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:30243429:G:A
                      Gene:
                      MAGEB1 (Varview), MAGEB4 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,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=0.00018/2 (TOMMO)
                      A=0.000684/2 (KOREAN)
                      HGVS:
                      11.

                      rs1477054714 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        X:30241828 (GRCh38)
                        X:30259945 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:30241827:A:G
                        Gene:
                        MAGEB1 (Varview), MAGEB4 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1476432996 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          X:30242689 (GRCh38)
                          X:30260806 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:30242688:A:G
                          Gene:
                          MAGEB1 (Varview), MAGEB4 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000005/1 (GnomAD_exomes)
                          G=0.000015/4 (TOPMED)
                          G=0.000019/2 (GnomAD)
                          HGVS:
                          13.

                          rs1475982501 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            X:30241390 (GRCh38)
                            X:30259507 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:30241389:A:G,NC_000023.11:30241389:A:T
                            Gene:
                            MAGEB4 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1475718368 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:30241348 (GRCh38)
                              X:30259465 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:30241347:T:C
                              Gene:
                              MAGEB4 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0./0 (KOREAN)
                              C=0.000015/4 (TOPMED)
                              C=0.000405/5 (TOMMO)
                              HGVS:
                              15.

                              rs1475208519 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                X:30242007 (GRCh38)
                                X:30260124 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:30242006:G:A
                                Gene:
                                MAGEB1 (Varview), MAGEB4 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,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)
                                HGVS:
                                16.

                                rs1474454440 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:30241551 (GRCh38)
                                  X:30259668 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:30241550:G:A
                                  Gene:
                                  MAGEB4 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000029/3 (GnomAD)
                                  A=0.00003/8 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1474321717 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    X:30242797 (GRCh38)
                                    X:30260914 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:30242796:G:T
                                    Gene:
                                    MAGEB1 (Varview), MAGEB4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1474015484 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      X:30240004 (GRCh38)
                                      X:30258121 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:30240003:A:G
                                      Gene:
                                      MAGEB4 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1473445879 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        X:30240120 (GRCh38)
                                        X:30258237 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:30240119:G:T
                                        Gene:
                                        MAGEB4 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000224/1 (ALFA)
                                        T=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1471127739 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:30243796 (GRCh38)
                                          X:30261913 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:30243795:G:A
                                          Gene:
                                          MAGEB1 (Varview), MAGEB4 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000048/5 (GnomAD)
                                          A=0.000053/14 (TOPMED)
                                          HGVS:

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