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Links from Nucleotide

Items: 1 to 20 of 452

1.

rs1490976115 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    14:100860869 (GRCh38)
    14:101327206 (GRCh37)
    Canonical SPDI:
    NC_000014.9:100860868:G:C
    Gene:
    MEG3 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    4.

    rs1487796085 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      14:100829424 (GRCh38)
      14:101295761 (GRCh37)
      Canonical SPDI:
      NC_000014.9:100829423:G:C
      Gene:
      MEG3 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000066/1 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      C=0.000223/1 (Estonian)
      HGVS:
      6.

      rs1485532647 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GGAGAGC [Show Flanks]
        Chromosome:
        14:100826124 (GRCh38)
        14:101292462 (GRCh37)
        Canonical SPDI:
        NC_000014.9:100826124:GCGGAGAGC:GCGGAGAGCGGAGAGC
        Gene:
        MEG3 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        GCGGAGAGCGGAGAGC=0./0 (ALFA)
        GCGGAGA=0.000014/2 (GnomAD)
        HGVS:
        7.

        rs1484505031 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          14:100828734 (GRCh38)
          14:101295071 (GRCh37)
          Canonical SPDI:
          NC_000014.9:100828733:C:T
          Gene:
          MEG3 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000015/4 (TOPMED)
          T=0.000021/3 (GnomAD)
          HGVS:
          9.

          rs1476408207 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            14:100829535 (GRCh38)
            14:101295872 (GRCh37)
            Canonical SPDI:
            NC_000014.9:100829534:G:T
            Gene:
            MEG3 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000015/4 (TOPMED)
            T=0.000021/3 (GnomAD)
            HGVS:
            11.

            rs1475527199 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              14:100829468 (GRCh38)
              14:101295805 (GRCh37)
              Canonical SPDI:
              NC_000014.9:100829467:C:
              Gene:
              MEG3 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000057/8 (GnomAD)
              -=0.000072/19 (TOPMED)
              HGVS:
              12.

              rs1473783128 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                14:100860695 (GRCh38)
                14:101327032 (GRCh37)
                Canonical SPDI:
                NC_000014.9:100860694:C:G
                Gene:
                MEG3 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                13.

                rs1473433909 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  14:100860814 (GRCh38)
                  14:101327151 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:100860813:G:C
                  Gene:
                  MEG3 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  14.

                  rs1471909294 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    14:100835804 (GRCh38)
                    14:101302141 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:100835803:T:G
                    Gene:
                    MEG3 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    15.

                    rs1471387252 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      14:100826135 (GRCh38)
                      14:101292472 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:100826134:G:A
                      Gene:
                      MEG3 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      16.
                      17.

                      rs1465991387 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:100829117 (GRCh38)
                        14:101295454 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:100829116:A:G
                        Gene:
                        MEG3 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        G=0.000021/3 (GnomAD)
                        HGVS:
                        18.

                        rs1464121724 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:100828736 (GRCh38)
                          14:101295073 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:100828735:T:C
                          Gene:
                          MEG3 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000375/1 (GnomAD_exomes)
                          HGVS:
                          20.

                          rs1461999600 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            14:100860818 (GRCh38)
                            14:101327155 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:100860817:T:C
                            Gene:
                            MEG3 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000011/1 (GnomAD_exomes)
                            C=0.000011/3 (TOPMED)
                            C=0.000014/2 (GnomAD)
                            HGVS:

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