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Links from Nucleotide

Items: 1 to 20 of 474

1.

rs1489875379 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    14:20596806 (GRCh38)
    14:21064965 (GRCh37)
    Canonical SPDI:
    NC_000014.9:20596805:A:G
    Gene:
    RNASE11-AS1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1486665562 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      14:20606660 (GRCh38)
      14:21074819 (GRCh37)
      Canonical SPDI:
      NC_000014.9:20606659:G:A,NC_000014.9:20606659:G:T
      Gene:
      RNASE11-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1486158815 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:20606907 (GRCh38)
        14:21075066 (GRCh37)
        Canonical SPDI:
        NC_000014.9:20606906:G:A
        Gene:
        RNASE11-AS1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1485691556 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          14:20606180 (GRCh38)
          14:21074339 (GRCh37)
          Canonical SPDI:
          NC_000014.9:20606179:C:A
          Gene:
          RNASE11-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          A=0.000156/1 (1000Genomes)
          HGVS:
          5.

          rs1485491457 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            14:20606802 (GRCh38)
            14:21074961 (GRCh37)
            Canonical SPDI:
            NC_000014.9:20606801:C:G
            Gene:
            RNASE11-AS1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1485031780 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              14:20607186 (GRCh38)
              14:21075345 (GRCh37)
              Canonical SPDI:
              NC_000014.9:20607185:G:C
              Gene:
              RNASE11-AS1 (Varview)
              Functional Consequence:
              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.

              rs1483687111 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                14:20590576 (GRCh38)
                14:21058735 (GRCh37)
                Canonical SPDI:
                NC_000014.9:20590575:T:C
                Gene:
                RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
                Functional Consequence:
                2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1477111216 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->TT [Show Flanks]
                  Chromosome:
                  14:20590454 (GRCh38)
                  14:21058614 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:20590454:TTTT:TTTTTT
                  Gene:
                  RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTT=0./0 (ALFA)
                  TT=0.000008/2 (TOPMED)
                  TT=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1476972258 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    14:20605871 (GRCh38)
                    14:21074030 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:20605870:G:A
                    Gene:
                    RNASE11-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1476490017 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      14:20596794 (GRCh38)
                      14:21064953 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:20596793:T:C
                      Gene:
                      RNASE11-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1476312207 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:20606777 (GRCh38)
                        14:21074936 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:20606776:G:A
                        Gene:
                        RNASE11-AS1 (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:
                        12.

                        rs1476085054 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          14:20606421 (GRCh38)
                          14:21074580 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:20606420:C:T
                          Gene:
                          RNASE11-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000071/1 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1475976880 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            14:20605866 (GRCh38)
                            14:21074025 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:20605865:G:A,NC_000014.9:20605865:G:C
                            Gene:
                            RNASE11-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.00007/1 (ALFA)
                            C=0.00022/1 (Estonian)
                            HGVS:
                            14.

                            rs1475657028 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              14:20590643 (GRCh38)
                              14:21058802 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:20590642:T:C
                              Gene:
                              RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1474585344 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                14:20588228 (GRCh38)
                                14:21056387 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:20588227:C:T
                                Gene:
                                RNASE11 (Varview), RNASE11-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1469535208 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  14:20590639 (GRCh38)
                                  14:21058798 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:20590638:G:A
                                  Gene:
                                  RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1468211174 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    14:20590590 (GRCh38)
                                    14:21058750 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:20590590:A:AA
                                    Gene:
                                    RNASE11 (Varview), RNASE11-AS1 (Varview), RNASE12 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1465740760 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      14:20606035 (GRCh38)
                                      14:21074195 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:20606035:A:AA
                                      Gene:
                                      RNASE11-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AA=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1465569507 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        14:20607138 (GRCh38)
                                        14:21075297 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:20607137:C:T
                                        Gene:
                                        RNASE11-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1465303483 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          14:20606741 (GRCh38)
                                          14:21074900 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:20606740:A:C
                                          Gene:
                                          RNASE11-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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