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Links from Nucleotide

Items: 1 to 20 of 216

1.

rs1489154607 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    2:16085688 (GRCh38)
    2:16225810 (GRCh37)
    Canonical SPDI:
    NC_000002.12:16085687:C:G,NC_000002.12:16085687:C:T
    Gene:
    GACAT3 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1487299215 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:16085589 (GRCh38)
      2:16225711 (GRCh37)
      Canonical SPDI:
      NC_000002.12:16085588:A:G
      Gene:
      GACAT3 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000015/4 (TOPMED)
      G=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1482452512 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        2:16085322 (GRCh38)
        2:16225444 (GRCh37)
        Canonical SPDI:
        NC_000002.12:16085321:A:C
        Gene:
        GACAT3 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1477724155 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:16081006 (GRCh38)
          2:16221128 (GRCh37)
          Canonical SPDI:
          NC_000002.12:16081005:A:G
          Gene:
          GACAT3 (Varview)
          Functional Consequence:
          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:
          5.

          rs1477611219 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            2:16085296 (GRCh38)
            2:16225418 (GRCh37)
            Canonical SPDI:
            NC_000002.12:16085295:C:G,NC_000002.12:16085295:C:T
            Gene:
            GACAT3 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1476170384 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              2:16085386 (GRCh38)
              2:16225508 (GRCh37)
              Canonical SPDI:
              NC_000002.12:16085385:A:G
              Gene:
              GACAT3 (Varview)
              Functional Consequence:
              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:
              7.

              rs1475311780 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:16081084 (GRCh38)
                2:16221206 (GRCh37)
                Canonical SPDI:
                NC_000002.12:16081083:C:T
                Gene:
                GACAT3 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1467287389 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:16050513 (GRCh38)
                  2:16190635 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:16050512:G:A
                  Gene:
                  GACAT3 (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=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1465339405 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:16085381 (GRCh38)
                    2:16225503 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:16085380:A:G
                    Gene:
                    GACAT3 (Varview)
                    Functional Consequence:
                    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:
                    10.

                    rs1461136984 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:16050548 (GRCh38)
                      2:16190670 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:16050547:G:A
                      Gene:
                      GACAT3 (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=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1456793210 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        2:16050677 (GRCh38)
                        2:16190799 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:16050676:G:T
                        Gene:
                        GACAT3 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1451310725 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          2:16080904 (GRCh38)
                          2:16221026 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:16080903:A:C
                          Gene:
                          GACAT3 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000342/1 (KOREAN)
                          HGVS:
                          13.

                          rs1448382816 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            2:16080917 (GRCh38)
                            2:16221039 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:16080916:A:T
                            Gene:
                            GACAT3 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000224/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1448249115 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:16085605 (GRCh38)
                              2:16225727 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:16085604:T:C
                              Gene:
                              GACAT3 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1446169805 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                2:16085509 (GRCh38)
                                2:16225631 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:16085508:A:T
                                Gene:
                                GACAT3 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000156/1 (1000Genomes)
                                HGVS:
                                16.

                                rs1443406841 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:16050454 (GRCh38)
                                  2:16190576 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:16050453:A:G
                                  Gene:
                                  GACAT3 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1443202070 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    2:16081037 (GRCh38)
                                    2:16221160 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:16081037::A
                                    Gene:
                                    GACAT3 (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:
                                    18.

                                    rs1434357934 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:16085430 (GRCh38)
                                      2:16225552 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:16085429:C:T
                                      Gene:
                                      GACAT3 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1432495288 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        2:16081071 (GRCh38)
                                        2:16221193 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:16081070:G:T
                                        Gene:
                                        GACAT3 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1431145779 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:16085671 (GRCh38)
                                          2:16225793 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:16085670:T:C
                                          Gene:
                                          GACAT3 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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