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Links from Nucleotide

Items: 1 to 20 of 177

1.

rs1490111228 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:171374804 (GRCh38)
    2:172231314 (GRCh37)
    Canonical SPDI:
    NC_000002.12:171374803:T:C
    Gene:
    METTL8 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1485953570 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:171374846 (GRCh38)
      2:172231356 (GRCh37)
      Canonical SPDI:
      NC_000002.12:171374845:T:C
      Gene:
      METTL8 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000014/2 (GnomAD)
      C=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1483802169 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        2:171375348 (GRCh38)
        2:172231858 (GRCh37)
        Canonical SPDI:
        NC_000002.12:171375347:G:A,NC_000002.12:171375347:G:C
        Gene:
        METTL8 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1480719247 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:171374877 (GRCh38)
          2:172231387 (GRCh37)
          Canonical SPDI:
          NC_000002.12:171374876:A:G
          Gene:
          METTL8 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1477581700 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:171375344 (GRCh38)
            2:172231854 (GRCh37)
            Canonical SPDI:
            NC_000002.12:171375343:T:C
            Gene:
            METTL8 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1477092240 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:171375269 (GRCh38)
              2:172231779 (GRCh37)
              Canonical SPDI:
              NC_000002.12:171375268:T:C
              Gene:
              METTL8 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1475979393 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:171374996 (GRCh38)
                2:172231506 (GRCh37)
                Canonical SPDI:
                NC_000002.12:171374995:G:A
                Gene:
                METTL8 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1471636741 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:171375086 (GRCh38)
                  2:172231596 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:171375085:G:A
                  Gene:
                  METTL8 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1471013062 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    2:171375347 (GRCh38)
                    2:172231857 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:171375346:T:A
                    Gene:
                    METTL8 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000014/2 (GnomAD)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1469902454 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:171375125 (GRCh38)
                      2:172231635 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:171375124:C:T
                      Gene:
                      METTL8 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1462980864 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        2:171374990 (GRCh38)
                        2:172231500 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:171374989:G:C,NC_000002.12:171374989:G:T
                        Gene:
                        METTL8 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        T=0.000071/1 (TOMMO)
                        HGVS:
                        12.

                        rs1462570275 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:171375077 (GRCh38)
                          2:172231587 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:171375076:A:G
                          Gene:
                          METTL8 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1454726569 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:171375194 (GRCh38)
                            2:172231704 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:171375193:A:G
                            Gene:
                            METTL8 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1454694128 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:171375196 (GRCh38)
                              2:172231706 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:171375195:C:T
                              Gene:
                              METTL8 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000021/3 (GnomAD)
                              T=0.00003/8 (TOPMED)
                              T=0.000546/1 (Korea1K)
                              HGVS:
                              15.

                              rs1454262725 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:171374839 (GRCh38)
                                2:172231349 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:171374838:G:A
                                Gene:
                                METTL8 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1442382147 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  2:171375136 (GRCh38)
                                  2:172231646 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:171375135:G:A,NC_000002.12:171375135:G:T
                                  Gene:
                                  METTL8 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1440381215 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:171375383 (GRCh38)
                                    2:172231893 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:171375382:G:A
                                    Gene:
                                    METTL8 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1434641022 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      2:171374892 (GRCh38)
                                      2:172231402 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:171374891:A:C
                                      Gene:
                                      METTL8 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1421780965 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        2:171375345 (GRCh38)
                                        2:172231855 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:171375344:A:C
                                        Gene:
                                        METTL8 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1418756917 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:171375244 (GRCh38)
                                          2:172231754 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:171375243:T:C
                                          Gene:
                                          METTL8 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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