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Links from Nucleotide

Items: 1 to 20 of 21

1.

rs1462864925 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:100924854 (GRCh38)
    14:101391191 (GRCh37)
    Canonical SPDI:
    NC_000014.9:100924853:A:G
    Gene:
    MEG8 (Varview), SNORD113-1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1440197255 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      14:100924875 (GRCh38)
      14:101391212 (GRCh37)
      Canonical SPDI:
      NC_000014.9:100924874:C:T
      Gene:
      MEG8 (Varview), SNORD113-1 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1395720831 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        14:100924845 (GRCh38)
        14:101391182 (GRCh37)
        Canonical SPDI:
        NC_000014.9:100924844:G:C
        Gene:
        MEG8 (Varview), SNORD113-1 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000009/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1371145352 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          14:100924886 (GRCh38)
          14:101391223 (GRCh37)
          Canonical SPDI:
          NC_000014.9:100924885:A:T
          Gene:
          MEG8 (Varview), SNORD113-1 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1324659998 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            14:100924882 (GRCh38)
            14:101391219 (GRCh37)
            Canonical SPDI:
            NC_000014.9:100924881:C:G
            Gene:
            MEG8 (Varview), SNORD113-1 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1272006198 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:100924824 (GRCh38)
              14:101391161 (GRCh37)
              Canonical SPDI:
              NC_000014.9:100924823:G:A
              Gene:
              MEG8 (Varview), SNORD113-1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1252669704 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                14:100924839 (GRCh38)
                14:101391176 (GRCh37)
                Canonical SPDI:
                NC_000014.9:100924838:T:A
                Gene:
                MEG8 (Varview), SNORD113-1 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1235992817 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  14:100924823 (GRCh38)
                  14:101391160 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:100924822:A:C
                  Gene:
                  MEG8 (Varview), SNORD113-1 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1166989831 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    14:100924848 (GRCh38)
                    14:101391185 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:100924847:A:T
                    Gene:
                    MEG8 (Varview), SNORD113-1 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs954776412 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      14:100924849 (GRCh38)
                      14:101391186 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:100924848:T:C
                      Gene:
                      MEG8 (Varview), SNORD113-1 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.0004/56 (GnomAD)
                      C=0.000514/136 (TOPMED)
                      HGVS:
                      11.

                      rs778475294 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:100924853 (GRCh38)
                        14:101391190 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:100924852:A:G
                        Gene:
                        MEG8 (Varview), SNORD113-1 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000009/1 (ExAC)
                        HGVS:
                        12.

                        rs776376274 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CATTAATTTTGAT>- [Show Flanks]
                          Chromosome:
                          14:100924856 (GRCh38)
                          14:101391193 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:100924853:ATCATTAATTTTGAT:AT
                          Gene:
                          MEG8 (Varview), SNORD113-1 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AT=0.001999/55 (ALFA)
                          -=0.000312/2 (1000Genomes)
                          -=0.001079/4 (TWINSUK)
                          -=0.001099/7 (GoESP)
                          -=0.001198/276 (GnomAD_exomes)
                          -=0.001297/5 (ALSPAC)
                          -=0.001432/379 (TOPMED)
                          -=0.00205/229 (ExAC)
                          -=0.00237/332 (GnomAD)
                          -=0.004687/21 (Estonian)
                          HGVS:
                          13.

                          rs773215611 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:100924874 (GRCh38)
                            14:101391211 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:100924873:C:T
                            Gene:
                            MEG8 (Varview), SNORD113-1 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000009/1 (ExAC)
                            HGVS:
                            14.

                            rs755566581 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              14:100924835 (GRCh38)
                              14:101391172 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:100924834:A:G
                              Gene:
                              MEG8 (Varview), SNORD113-1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000009/1 (ExAC)
                              HGVS:
                              15.

                              rs750936542 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                14:100924825 (GRCh38)
                                14:101391162 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:100924824:T:C
                                Gene:
                                MEG8 (Varview), SNORD113-1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.000009/1 (ExAC)
                                C=0.000009/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs748855822 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:100924842 (GRCh38)
                                  14:101391179 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:100924841:T:C
                                  Gene:
                                  MEG8 (Varview), SNORD113-1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000009/1 (ExAC)
                                  HGVS:
                                  17.

                                  rs747959459 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    14:100924858 (GRCh38)
                                    14:101391195 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:100924857:T:C,NC_000014.9:100924857:T:G
                                    Gene:
                                    MEG8 (Varview), SNORD113-1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    C=0.000009/1 (ExAC)
                                    C=0.000009/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs575475857 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      14:100924846 (GRCh38)
                                      14:101391183 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:100924845:G:A,NC_000014.9:100924845:G:C,NC_000014.9:100924845:G:T
                                      Gene:
                                      MEG8 (Varview), SNORD113-1 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      T=0.000027/3 (ExAC)
                                      C=0.0004/56 (GnomAD)
                                      C=0.000514/136 (TOPMED)
                                      T=0.001002/1 (GoNL)
                                      HGVS:
                                      19.

                                      rs562831736 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        14:100924890 (GRCh38)
                                        14:101391227 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:100924889:C:T
                                        Gene:
                                        MEG8 (Varview), SNORD113-1 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000009/1 (ExAC)
                                        T=0.000156/1 (1000Genomes)
                                        HGVS:
                                        20.

                                        rs552909705 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          14:100924873 (GRCh38)
                                          14:101391210 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:100924872:C:A,NC_000014.9:100924872:C:T
                                          Gene:
                                          MEG8 (Varview), SNORD113-1 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000009/1 (ExAC)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000156/1 (1000Genomes)
                                          HGVS:

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