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Items: 1 to 20 of 168

1.

rs1489790367 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    16:21612773 (GRCh38)
    16:21624094 (GRCh37)
    Canonical SPDI:
    NC_000016.10:21612772:A:G
    Gene:
    METTL9 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000011/3 (TOPMED)
    HGVS:

    2.

    rs1487753854 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:21625064 (GRCh38)
      16:21636385 (GRCh37)
      Canonical SPDI:
      NC_000016.10:21625063:G:A
      Gene:
      METTL9 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1484579693 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:21655315 (GRCh38)
        16:21666636 (GRCh37)
        Canonical SPDI:
        NC_000016.10:21655314:C:T
        Gene:
        METTL9 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        T=0.000008/2 (GnomAD_exomes)
        HGVS:

        4.

        rs1479847802 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          16:21597294 (GRCh38)
          16:21608615 (GRCh37)
          Canonical SPDI:
          NC_000016.10:21597293:T:C,NC_000016.10:21597293:T:G
          Gene:
          METTL9 (Varview), LOC101927814 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,stop_gained,intron_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          HGVS:

          5.

          rs1478300603 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            16:21612781 (GRCh38)
            16:21624102 (GRCh37)
            Canonical SPDI:
            NC_000016.10:21612780:A:G
            Gene:
            METTL9 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1476665577 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AACTTGCTG>- [Show Flanks]
              Chromosome:
              16:21624992 (GRCh38)
              16:21636313 (GRCh37)
              Canonical SPDI:
              NC_000016.10:21624988:CTGAACTTGCTG:CTG
              Gene:
              METTL9 (Varview)
              Functional Consequence:
              coding_sequence_variant,inframe_deletion
              Validated:
              by frequency
              MAF:
              -=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1459838864 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                16:21625113 (GRCh38)
                16:21636434 (GRCh37)
                Canonical SPDI:
                NC_000016.10:21625112:A:C
                Gene:
                METTL9 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1450769369 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,G [Show Flanks]
                  Chromosome:
                  16:21617904 (GRCh38)
                  16:21629225 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:21617903:T:A,NC_000016.10:21617903:T:G
                  Gene:
                  METTL9 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000016.10:g.21617904T>A, NC_000016.10:g.21617904T>G, NC_000016.9:g.21629225T>A, NC_000016.9:g.21629225T>G, NW_017852933.1:g.1486954A>T, NW_017852933.1:g.1486954A>C, NM_016025.5:c.396T>A, NM_016025.5:c.396T>G, NM_016025.4:c.396T>A, NM_016025.4:c.396T>G, NM_016025.3:c.396T>A, NM_016025.3:c.396T>G, NM_001077180.3:c.396T>A, NM_001077180.3:c.396T>G, NM_001077180.2:c.396T>A, NM_001077180.2:c.396T>G, NM_001077180.1:c.396T>A, NM_001077180.1:c.396T>G, NM_001288659.2:c.276T>A, NM_001288659.2:c.276T>G, NM_001288659.1:c.276T>A, NM_001288659.1:c.276T>G, NM_001288660.2:c.276T>A, NM_001288660.2:c.276T>G, NM_001288660.1:c.276T>A, NM_001288660.1:c.276T>G, NP_057109.3:p.Asp132Glu, NP_057109.3:p.Asp132Glu, NP_001070648.1:p.Asp132Glu, NP_001070648.1:p.Asp132Glu, NP_001275588.1:p.Asp92Glu, NP_001275588.1:p.Asp92Glu, NP_001275589.1:p.Asp92Glu, NP_001275589.1:p.Asp92Glu

                  9.

                  rs1447249787 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:21612674 (GRCh38)
                    16:21623995 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:21612673:C:T
                    Gene:
                    METTL9 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1445136204 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:21618036 (GRCh38)
                      16:21629357 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:21618035:T:C
                      Gene:
                      METTL9 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      HGVS:

                      11.

                      rs1444484033 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        16:21618070 (GRCh38)
                        16:21629391 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:21618069:T:A
                        Gene:
                        METTL9 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.0005/1 (Korea1K)
                        HGVS:

                        12.

                        rs1432056894 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          16:21612647 (GRCh38)
                          16:21623968 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:21612646:G:T
                          Gene:
                          METTL9 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.0009/4 (ALFA)
                          HGVS:

                          13.

                          rs1430700276 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G,T [Show Flanks]
                            Chromosome:
                            16:21625082 (GRCh38)
                            16:21636403 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:21625081:C:A,NC_000016.10:21625081:C:G,NC_000016.10:21625081:C:T
                            Gene:
                            METTL9 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000016.10:g.21625082C>A, NC_000016.10:g.21625082C>G, NC_000016.10:g.21625082C>T, NC_000016.9:g.21636403C>A, NC_000016.9:g.21636403C>G, NC_000016.9:g.21636403C>T, NW_017852933.1:g.1479745G>T, NW_017852933.1:g.1479745G>C, NW_017852933.1:g.1479745G>A, NM_016025.5:c.718C>A, NM_016025.5:c.718C>G, NM_016025.5:c.718C>T, NM_016025.4:c.718C>A, NM_016025.4:c.718C>G, NM_016025.4:c.718C>T, NM_016025.3:c.718C>A, NM_016025.3:c.718C>G, NM_016025.3:c.718C>T, NM_001077180.3:c.718C>A, NM_001077180.3:c.718C>G, NM_001077180.3:c.718C>T, NM_001077180.2:c.718C>A, NM_001077180.2:c.718C>G, NM_001077180.2:c.718C>T, NM_001077180.1:c.718C>A, NM_001077180.1:c.718C>G, NM_001077180.1:c.718C>T, NM_001288659.2:c.598C>A, NM_001288659.2:c.598C>G, NM_001288659.2:c.598C>T, NM_001288659.1:c.598C>A, NM_001288659.1:c.598C>G, NM_001288659.1:c.598C>T, NM_001288660.2:c.598C>A, NM_001288660.2:c.598C>G, NM_001288660.2:c.598C>T, NM_001288660.1:c.598C>A, NM_001288660.1:c.598C>G, NM_001288660.1:c.598C>T, NP_057109.3:p.Leu240Ile, NP_057109.3:p.Leu240Val, NP_057109.3:p.Leu240Phe, NP_001070648.1:p.Leu240Ile, NP_001070648.1:p.Leu240Val, NP_001070648.1:p.Leu240Phe, NP_001275588.1:p.Leu200Ile, NP_001275588.1:p.Leu200Val, NP_001275588.1:p.Leu200Phe, NP_001275589.1:p.Leu200Ile, NP_001275589.1:p.Leu200Val, NP_001275589.1:p.Leu200Phe

                            14.

                            rs1425546394 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              16:21655339 (GRCh38)
                              16:21666660 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:21655338:A:T
                              Gene:
                              METTL9 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1422880915 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                16:21612792 (GRCh38)
                                16:21624113 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:21612791:T:G
                                Gene:
                                METTL9 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (GnomAD_exomes)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1413989500 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  16:21617999 (GRCh38)
                                  16:21629320 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:21617998:G:C
                                  Gene:
                                  METTL9 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1413433647 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:21597276 (GRCh38)
                                    16:21608597 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:21597275:C:T
                                    Gene:
                                    METTL9 (Varview), LOC101927814 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1412591799 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      16:21617985 (GRCh38)
                                      16:21629306 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:21617984:C:T
                                      Gene:
                                      METTL9 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1407393927 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        16:21612653 (GRCh38)
                                        16:21623974 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:21612652:G:C,NC_000016.10:21612652:G:T
                                        Gene:
                                        METTL9 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000132/2 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000008/1 (GnomAD)
                                        T=0.00078/22 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1401540172 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:21624994 (GRCh38)
                                          16:21636315 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:21624993:C:T
                                          Gene:
                                          METTL9 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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