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Links from Gene

Items: 1 to 20 of 1182

1.

rs1490566017 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    X:153183411 (GRCh38)
    X:152481989 (GRCh37)
    Canonical SPDI:
    NC_000023.11:153183410:T:G
    Gene:
    MAGEA1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1490076090 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:153182599 (GRCh38)
      X:152482801 (GRCh37)
      Canonical SPDI:
      NC_000023.11:153182598:C:T
      Gene:
      MAGEA1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1489461718 has merged into rs199931014 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CCTACCACCCCCAATCCCTCCC>- [Show Flanks]
        Chromosome:
        X:153178534 (GRCh38)
        X:152486854 (GRCh37)
        Canonical SPDI:
        NC_000023.11:153178524:ATCCCTCCCCCTACCACCCCCAATCCCTCCC:ATCCCTCCC
        Gene:
        MAGEA1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ATCCCTCCC=0.009609/135 (ALFA)
        -=0.011352/1141 (GnomAD)
        -=0.013079/3462 (TOPMED)
        ATCCCTCCCCCTACCACCCCCA=0.985016/3718 (1000Genomes)
        HGVS:
        4.

        rs1488736486 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:153180652 (GRCh38)
          X:152484748 (GRCh37)
          Canonical SPDI:
          NC_000023.11:153180651:G:A
          Gene:
          MAGEA1 (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:
          5.

          rs1488635664 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:153177541 (GRCh38)
            X:152487859 (GRCh37)
            Canonical SPDI:
            NC_000023.11:153177540:G:A
            Gene:
            MAGEA1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000084/1 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488479712 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              X:153177919 (GRCh38)
              X:152487481 (GRCh37)
              Canonical SPDI:
              NC_000023.11:153177918:A:C,NC_000023.11:153177918:A:G
              Gene:
              MAGEA1 (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:
              7.

              rs1487102555 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                X:153184112 (GRCh38)
                X:152481288 (GRCh37)
                Canonical SPDI:
                NC_000023.11:153184111:C:G
                Gene:
                MAGEA1 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.00001/1 (GnomAD)
                G=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1486488548 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:153180448 (GRCh38)
                  X:152484952 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:153180447:C:T
                  Gene:
                  MAGEA1 (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:
                  9.

                  rs1486240497 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:153180019 (GRCh38)
                    X:152485381 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:153180018:G:A
                    Gene:
                    MAGEA1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000023/6 (TOPMED)
                    A=0.00005/5 (GnomAD)
                    HGVS:
                    10.

                    rs1486214907 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      X:153179425 (GRCh38)
                      X:152485975 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:153179424:C:G
                      Gene:
                      MAGEA1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000142/2 (ALFA)
                      G=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1485304155 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        X:153179691 (GRCh38)
                        X:152485709 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:153179690:C:G
                        Gene:
                        MAGEA1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000142/2 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1485283329 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:153177820 (GRCh38)
                          X:152487580 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:153177819:G:A
                          Gene:
                          MAGEA1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1483164110 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:153181348 (GRCh38)
                            X:152484052 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:153181347:C:T
                            Gene:
                            MAGEA1 (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:
                            14.

                            rs1482968991 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:153180872 (GRCh38)
                              X:152484528 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:153180871:T:C
                              Gene:
                              MAGEA1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.00001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1482939167 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:153180345 (GRCh38)
                                X:152485055 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:153180344:C:T
                                Gene:
                                MAGEA1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1481592592 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  X:153184251 (GRCh38)
                                  X:152481149 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:153184250:G:A
                                  Gene:
                                  MAGEA1 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1481540730 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CCACCCTCCAGCCCCA>- [Show Flanks]
                                    Chromosome:
                                    X:153179767 (GRCh38)
                                    X:152485621 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:153179763:CCACCACCCTCCAGCCCCA:CCA
                                    Gene:
                                    MAGEA1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CCA=0./0 (ALFA)
                                    -=0.00001/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1480919017 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      X:153183531 (GRCh38)
                                      X:152481869 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:153183530:T:A
                                      Gene:
                                      MAGEA1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.00001/1 (GnomAD)
                                      A=0.00003/8 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1480335349 has merged into rs782732372 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->G [Show Flanks]
                                        Chromosome:
                                        X:153178454 (GRCh38)
                                        X:152486943 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:153178454:GGG:GGGG
                                        Gene:
                                        MAGEA1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GGGG=0./0 (ALFA)
                                        C=0./0 (ALSPAC)
                                        G=0.00002/2 (GnomAD)
                                        G=0.000026/7 (TOPMED)
                                        C=0.00027/1 (TWINSUK)
                                        HGVS:
                                        20.

                                        rs1479666974 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:153183783 (GRCh38)
                                          X:152481617 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:153183782:T:C
                                          Gene:
                                          MAGEA1 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000026/7 (TOPMED)
                                          C=0.000048/5 (GnomAD)
                                          HGVS:

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