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Links from Nucleotide

Items: 1 to 20 of 158

1.

rs1490556240 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:16896092 (GRCh38)
    1:17222587 (GRCh37)
    Canonical SPDI:
    NC_000001.11:16896091:A:G
    Gene:
    RNU1-2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000084/1 (ALFA)
    G=0.000036/5 (GnomAD)
    HGVS:
    2.

    rs1490527621 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      1:16895980 (GRCh38)
      1:17222475 (GRCh37)
      Canonical SPDI:
      NC_000001.11:16895979:A:T
      Gene:
      RNU1-2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1490037963 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        1:16896032 (GRCh38)
        1:17222527 (GRCh37)
        Canonical SPDI:
        NC_000001.11:16896031:C:A,NC_000001.11:16896031:C:G,NC_000001.11:16896031:C:T
        Gene:
        RNU1-2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        T=0./0 (Korea1K)
        T=0.00039/7 (TOMMO)
        T=0.00137/4 (KOREAN)
        C=0.5/2 (SGDP_PRJ)
        HGVS:
        4.

        rs1489793249 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          1:16896094 (GRCh38)
          1:17222589 (GRCh37)
          Canonical SPDI:
          NC_000001.11:16896093:T:C,NC_000001.11:16896093:T:G
          Gene:
          RNU1-2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.00008/1 (ALFA)
          HGVS:
          5.

          rs1483275254 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            1:16895988 (GRCh38)
            1:17222483 (GRCh37)
            Canonical SPDI:
            NC_000001.11:16895987:C:G,NC_000001.11:16895987:C:T
            Gene:
            RNU1-2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1482744897 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              1:16896133 (GRCh38)
              1:17222628 (GRCh37)
              Canonical SPDI:
              NC_000001.11:16896132:G:A,NC_000001.11:16896132:G:C,NC_000001.11:16896132:G:T
              Gene:
              RNU1-2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.00006/1 (TOMMO)
              A=0.00034/1 (KOREAN)
              HGVS:
              7.

              rs1482293240 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                1:16896098 (GRCh38)
                1:17222593 (GRCh37)
                Canonical SPDI:
                NC_000001.11:16896097:C:G,NC_000001.11:16896097:C:T
                Gene:
                RNU1-2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0./0 (KOREAN)
                T=0.00004/1 (TOMMO)
                T=0.00047/3 (1000Genomes)
                T=0.00055/1 (Korea1K)
                HGVS:
                8.

                rs1475243213 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  1:16895990 (GRCh38)
                  1:17222485 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:16895989:G:A,NC_000001.11:16895989:G:T
                  Gene:
                  RNU1-2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1471818373 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G,T [Show Flanks]
                    Chromosome:
                    1:16895993 (GRCh38)
                    1:17222488 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:16895992:A:C,NC_000001.11:16895992:A:G,NC_000001.11:16895992:A:T
                    Gene:
                    RNU1-2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    C=0.00016/1 (1000Genomes)
                    C=0.00055/1 (Korea1K)
                    C=0.00107/18 (TOMMO)
                    C=0.00205/6 (KOREAN)
                    HGVS:
                    10.

                    rs1471429493 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G,T [Show Flanks]
                      Chromosome:
                      1:16896071 (GRCh38)
                      1:17222566 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:16896070:C:A,NC_000001.11:16896070:C:G,NC_000001.11:16896070:C:T
                      Gene:
                      RNU1-2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      T=0.000342/1 (KOREAN)
                      T=0.000354/6 (TOMMO)
                      C=0.5/1 (SGDP_PRJ)
                      HGVS:
                      11.

                      rs1469138932 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GCGTTCGCGCTTTCCCCTGACT>- [Show Flanks]
                        Chromosome:
                        1:16896125 (GRCh38)
                        1:17222620 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:16896120:GACTGCGTTCGCGCTTTCCCCTGACT:GACT
                        Gene:
                        RNU1-2 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GACT=0./0 (ALFA)
                        -=0.000015/2 (GnomAD)
                        -=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1467931882 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          1:16896047 (GRCh38)
                          1:17222542 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:16896046:G:A,NC_000001.11:16896046:G:T
                          Gene:
                          RNU1-2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          A=0.000142/2 (TOMMO)
                          HGVS:
                          13.

                          rs1465416120 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:16896062 (GRCh38)
                            1:17222557 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:16896061:T:C
                            Gene:
                            RNU1-2 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.00008/1 (ALFA)
                            HGVS:
                            14.

                            rs1464451773 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C,G [Show Flanks]
                              Chromosome:
                              1:16896038 (GRCh38)
                              1:17222533 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:16896037:T:A,NC_000001.11:16896037:T:C,NC_000001.11:16896037:T:G
                              Gene:
                              RNU1-2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1463892735 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                1:16896019 (GRCh38)
                                1:17222514 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:16896018:GG:G
                                Gene:
                                RNU1-2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GG=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1458390238 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  1:16896106 (GRCh38)
                                  1:17222601 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:16896105:T:A,NC_000001.11:16896105:T:C
                                  Gene:
                                  RNU1-2 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000179/25 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1456970538 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    1:16896074 (GRCh38)
                                    1:17222569 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:16896073:T:C,NC_000001.11:16896073:T:G
                                    Gene:
                                    RNU1-2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1455179064 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:16896050 (GRCh38)
                                      1:17222545 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:16896049:C:T
                                      Gene:
                                      RNU1-2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.00017/2 (ALFA)
                                      T=0.00012/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1450676724 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        1:16896043 (GRCh38)
                                        1:17222538 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:16896042:C:A,NC_000001.11:16896042:C:G,NC_000001.11:16896042:C:T
                                        Gene:
                                        RNU1-2 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.00137/4 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1448969288 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          1:16896016 (GRCh38)
                                          1:17222511 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:16896015:G:A,NC_000001.11:16896015:G:T
                                          Gene:
                                          RNU1-2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000061/1 (ALFA)
                                          A=0.000445/62 (GnomAD)
                                          A=0.001874/12 (1000Genomes)
                                          A=0.005133/15 (KOREAN)
                                          A=0.008734/16 (Korea1K)
                                          A=0.012138/203 (TOMMO)
                                          G=0.5/1 (SGDP_PRJ)
                                          HGVS:

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