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Items: 1 to 20 of 3832

1.

rs1491188961 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    14:21500371 (GRCh38)
    14:21968513 (GRCh37)
    Canonical SPDI:
    NC_000014.9:21500369:AGA:A
    Gene:
    METTL3 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.0145/172 (ALFA)
    -=0.000991/17 (TOMMO)
    -=0.003821/7 (Korea1K)
    -=0.019758/2468 (GnomAD)
    HGVS:
    2.

    rs1490844152 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:21502072 (GRCh38)
      14:21970213 (GRCh37)
      Canonical SPDI:
      NC_000014.9:21502071:G:A
      Gene:
      METTL3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000008/1 (GnomAD)
      HGVS:
      3.

      rs1490812466 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        14:21509686 (GRCh38)
        14:21977828 (GRCh37)
        Canonical SPDI:
        NC_000014.9:21509685:G:C
        Gene:
        METTL3 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490615765 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          14:21509127 (GRCh38)
          14:21977269 (GRCh37)
          Canonical SPDI:
          NC_000014.9:21509126:C:T
          Gene:
          METTL3 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490485103 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            14:21498982 (GRCh38)
            14:21967126 (GRCh37)
            Canonical SPDI:
            NC_000014.9:21498981:A:G
            Gene:
            TOX4 (Varview), METTL3 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.000111/1 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1490351463 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              14:21513099 (GRCh38)
              14:21981250 (GRCh37)
              Canonical SPDI:
              NC_000014.9:21513098:T:C,NC_000014.9:21513098:T:G
              Gene:
              METTL3 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490040798 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                14:21502582 (GRCh38)
                14:21970723 (GRCh37)
                Canonical SPDI:
                NC_000014.9:21502581:G:A,NC_000014.9:21502581:G:C,NC_000014.9:21502581:G:T
                Gene:
                METTL3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489923538 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  14:21504237 (GRCh38)
                  14:21972380 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:21504236:T:C
                  Gene:
                  METTL3 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1488625026 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:21507112 (GRCh38)
                    14:21975254 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:21507111:C:T
                    Gene:
                    METTL3 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.00007/1 (ALFA)
                    HGVS:
                    10.

                    rs1488574544 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      14:21508088 (GRCh38)
                      14:21976230 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:21508087:C:G,NC_000014.9:21508087:C:T
                      Gene:
                      METTL3 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1487920925 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,G [Show Flanks]
                        Chromosome:
                        14:21511442 (GRCh38)
                        14:21979584 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:21511441:T:A,NC_000014.9:21511441:T:G
                        Gene:
                        METTL3 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000026/7 (TOPMED)
                        G=0.001638/3 (Korea1K)
                        HGVS:
                        12.

                        rs1487887666 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          14:21508850 (GRCh38)
                          14:21976992 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:21508849:C:A,NC_000014.9:21508849:C:T
                          Gene:
                          METTL3 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.00005/7 (GnomAD)
                          T=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1487706516 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            14:21512223 (GRCh38)
                            14:21980373 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:21512222:G:A,NC_000014.9:21512222:G:C,NC_000014.9:21512222:G:T
                            Gene:
                            METTL3 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1487585988 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              14:21511804 (GRCh38)
                              14:21979946 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:21511803:A:
                              Gene:
                              METTL3 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487378788 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:21512600 (GRCh38)
                                14:21980750 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:21512599:G:A
                                Gene:
                                METTL3 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1487040928 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:21506850 (GRCh38)
                                  14:21974992 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:21506849:T:C
                                  Gene:
                                  METTL3 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486891409 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:21497877 (GRCh38)
                                    14:21966021 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:21497876:C:T
                                    Gene:
                                    TOX4 (Varview), METTL3 (Varview)
                                    Functional Consequence:
                                    500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1486230889 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      14:21498500 (GRCh38)
                                      14:21966644 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:21498499:C:
                                      Gene:
                                      TOX4 (Varview), METTL3 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.000128/18 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486100378 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        14:21505903 (GRCh38)
                                        14:21974045 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:21505902:A:T
                                        Gene:
                                        METTL3 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486040574 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:21505653 (GRCh38)
                                          14:21973795 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:21505652:G:A
                                          Gene:
                                          METTL3 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.001119/5 (ALFA)
                                          A=0.000029/4 (GnomAD)
                                          A=0.001116/5 (Estonian)
                                          HGVS:

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