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Links from Nucleotide

Items: 1 to 20 of 39

1.

rs1475515606 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    14:81202736 (GRCh38)
    14:81669080 (GRCh37)
    Canonical SPDI:
    NC_000014.9:81202735:T:C
    Gene:
    GTF2A1 (Varview), SNORA79 (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=0.000007/1 (GnomAD)
    C=0.000034/9 (TOPMED)
    HGVS:
    2.

    rs1462263754 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      14:81202830 (GRCh38)
      14:81669174 (GRCh37)
      Canonical SPDI:
      NC_000014.9:81202829:C:A
      Gene:
      GTF2A1 (Varview), SNORA79 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant
      HGVS:
      3.

      rs1450495304 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        14:81202758 (GRCh38)
        14:81669102 (GRCh37)
        Canonical SPDI:
        NC_000014.9:81202757:A:G
        Gene:
        GTF2A1 (Varview), SNORA79 (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        4.

        rs1450343885 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          14:81202729 (GRCh38)
          14:81669073 (GRCh37)
          Canonical SPDI:
          NC_000014.9:81202728:A:G
          Gene:
          GTF2A1 (Varview), SNORA79 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1445972839 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            14:81202753 (GRCh38)
            14:81669097 (GRCh37)
            Canonical SPDI:
            NC_000014.9:81202752:G:A
            Gene:
            GTF2A1 (Varview), SNORA79 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1436112997 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              14:81202803 (GRCh38)
              14:81669147 (GRCh37)
              Canonical SPDI:
              NC_000014.9:81202802:A:C
              Gene:
              GTF2A1 (Varview), SNORA79 (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 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1379185341 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                14:81202833 (GRCh38)
                14:81669177 (GRCh37)
                Canonical SPDI:
                NC_000014.9:81202832:C:A
                Gene:
                GTF2A1 (Varview), SNORA79 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                HGVS:
                8.

                rs1358771460 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  14:81202732 (GRCh38)
                  14:81669076 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:81202731:T:A
                  Gene:
                  GTF2A1 (Varview), SNORA79 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  HGVS:
                  9.

                  rs1345587399 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    14:81202771 (GRCh38)
                    14:81669115 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:81202770:T:C
                    Gene:
                    GTF2A1 (Varview), SNORA79 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000009/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1319989323 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      14:81202768 (GRCh38)
                      14:81669112 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:81202767:A:C
                      Gene:
                      GTF2A1 (Varview), SNORA79 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1315837003 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        14:81202801 (GRCh38)
                        14:81669145 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:81202800:C:G
                        Gene:
                        GTF2A1 (Varview), SNORA79 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1289175330 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTG>- [Show Flanks]
                          Chromosome:
                          14:81202700 (GRCh38)
                          14:81669044 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:81202697:TGTTTG:TG
                          Gene:
                          GTF2A1 (Varview), SNORA79 (Varview)
                          Functional Consequence:
                          intron_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TG=0./0 (ALFA)
                          -=0.000004/1 (GnomAD_exomes)
                          -=0.000021/3 (GnomAD)
                          -=0.00003/8 (TOPMED)
                          HGVS:
                          13.

                          rs1248337474 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            14:81202799 (GRCh38)
                            14:81669143 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:81202798:T:C
                            Gene:
                            GTF2A1 (Varview), SNORA79 (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1243878474 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              14:81202790 (GRCh38)
                              14:81669134 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:81202789:A:G
                              Gene:
                              GTF2A1 (Varview), SNORA79 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1240962560 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                14:81202829 (GRCh38)
                                14:81669173 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:81202828:T:A
                                Gene:
                                GTF2A1 (Varview), SNORA79 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000019/4 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1225326725 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  14:81202699 (GRCh38)
                                  14:81669043 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:81202698:G:A
                                  Gene:
                                  GTF2A1 (Varview), SNORA79 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1222594767 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    14:81202823 (GRCh38)
                                    14:81669167 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:81202822:G:A
                                    Gene:
                                    GTF2A1 (Varview), SNORA79 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant
                                    HGVS:
                                    18.

                                    rs1214018863 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:81202719 (GRCh38)
                                      14:81669063 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:81202718:G:A
                                      Gene:
                                      GTF2A1 (Varview), SNORA79 (Varview)
                                      Functional Consequence:
                                      intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1208953775 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        14:81202828 (GRCh38)
                                        14:81669172 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:81202827:G:A
                                        Gene:
                                        GTF2A1 (Varview), SNORA79 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant
                                        HGVS:
                                        20.

                                        rs1183611058 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          14:81202832 (GRCh38)
                                          14:81669176 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:81202831:T:A
                                          Gene:
                                          GTF2A1 (Varview), SNORA79 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant
                                          HGVS:

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