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Links from Nucleotide

Items: 1 to 20 of 30

1.

rs1378693890 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    14:100953386 (GRCh38)
    14:101419723 (GRCh37)
    Canonical SPDI:
    NC_000014.9:100953385:G:A
    Gene:
    MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1374120518 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      14:100953407 (GRCh38)
      14:101419744 (GRCh37)
      Canonical SPDI:
      NC_000014.9:100953406:G:C
      Gene:
      MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1355551271 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        14:100953422 (GRCh38)
        14:101419759 (GRCh37)
        Canonical SPDI:
        NC_000014.9:100953421:A:G
        Gene:
        MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1351318149 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          14:100953366 (GRCh38)
          14:101419703 (GRCh37)
          Canonical SPDI:
          NC_000014.9:100953365:C:G
          Gene:
          MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
          HGVS:
          5.

          rs1345599989 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            14:100953361 (GRCh38)
            14:101419698 (GRCh37)
            Canonical SPDI:
            NC_000014.9:100953360:G:A
            Gene:
            MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_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:
            6.

            rs1337309026 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              14:100953391 (GRCh38)
              14:101419728 (GRCh37)
              Canonical SPDI:
              NC_000014.9:100953390:T:G
              Gene:
              MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1334057177 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                14:100953394 (GRCh38)
                14:101419731 (GRCh37)
                Canonical SPDI:
                NC_000014.9:100953393:A:G
                Gene:
                MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1291562096 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  14:100953363 (GRCh38)
                  14:101419700 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:100953362:C:T
                  Gene:
                  MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1281876130 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    14:100953356 (GRCh38)
                    14:101419693 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:100953355:A:G
                    Gene:
                    MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000009/2 (GnomAD_exomes)
                    G=0.000014/2 (GnomAD)
                    G=0.000023/6 (TOPMED)
                    HGVS:
                    10.

                    rs1237629945 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      14:100953359 (GRCh38)
                      14:101419696 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:100953358:A:G
                      Gene:
                      MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1237021584 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        14:100953375 (GRCh38)
                        14:101419712 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:100953374:T:G
                        Gene:
                        MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1183879979 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:100953384 (GRCh38)
                          14:101419721 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:100953383:T:C
                          Gene:
                          MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs892121943 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            14:100953358 (GRCh38)
                            14:101419695 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:100953357:G:C
                            Gene:
                            MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000019/5 (TOPMED)
                            C=0.000029/4 (GnomAD)
                            HGVS:
                            14.

                            rs780934649 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              14:100953367 (GRCh38)
                              14:101419704 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:100953366:T:G
                              Gene:
                              MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              G=0.000009/1 (ExAC)
                              G=0.000009/2 (GnomAD_exomes)
                              G=0.000546/1 (Korea1K)
                              HGVS:
                              15.

                              rs777297163 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                14:100953411 (GRCh38)
                                14:101419748 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:100953410:C:T
                                Gene:
                                MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000009/1 (ExAC)
                                HGVS:
                                16.

                                rs775294616 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  14:100953374 (GRCh38)
                                  14:101419711 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:100953373:G:A
                                  Gene:
                                  MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000009/1 (ExAC)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000017/4 (GnomAD_exomes)
                                  A=0.004717/1 (Vietnamese)
                                  G=0.5/1 (SGDP_PRJ)
                                  HGVS:
                                  17.

                                  rs772298960 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    14:100953387 (GRCh38)
                                    14:101419724 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:100953386:A:G
                                    Gene:
                                    MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000009/1 (ExAC)
                                    HGVS:
                                    18.

                                    rs770674459 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      14:100953362 (GRCh38)
                                      14:101419699 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:100953361:A:G
                                      Gene:
                                      MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000009/2 (GnomAD_exomes)
                                      G=0.000018/2 (ExAC)
                                      HGVS:
                                      19.

                                      rs769765690 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        14:100953373 (GRCh38)
                                        14:101419710 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:100953372:C:T
                                        Gene:
                                        MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000051/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000018/2 (ExAC)
                                        T=0.000026/6 (GnomAD_exomes)
                                        T=0.00006/1 (TOMMO)
                                        T=0.000342/1 (KOREAN)
                                        HGVS:
                                        20.

                                        rs766752201 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:100953390 (GRCh38)
                                          14:101419727 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:100953389:A:G
                                          Gene:
                                          MEG8 (Varview), SNORD114-3 (Varview), SNORD114-4 (Varview), SNORD114-5 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000009/1 (ExAC)
                                          HGVS:

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