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Links from Nucleotide

Items: 1 to 20 of 341

1.

rs1489280443 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    21:36132373 (GRCh38)
    21:37504671 (GRCh37)
    Canonical SPDI:
    NC_000021.9:36132372:G:A
    Gene:
    CBR3-AS1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000224/1 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000223/1 (Estonian)
    HGVS:
    2.

    rs1488527464 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GAGTATGGG>- [Show Flanks]
      Chromosome:
      21:36132549 (GRCh38)
      21:37504847 (GRCh37)
      Canonical SPDI:
      NC_000021.9:36132548:GAGTATGGG:
      Gene:
      CBR3-AS1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1486504292 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        21:36132673 (GRCh38)
        21:37504971 (GRCh37)
        Canonical SPDI:
        NC_000021.9:36132672:T:C
        Gene:
        CBR3-AS1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1485302803 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          21:36131775 (GRCh38)
          21:37504073 (GRCh37)
          Canonical SPDI:
          NC_000021.9:36131774:A:G
          Gene:
          CBR3-AS1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1484515628 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            21:36133010 (GRCh38)
            21:37505308 (GRCh37)
            Canonical SPDI:
            NC_000021.9:36133009:G:A
            Gene:
            CBR3-AS1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000035/1 (TOMMO)
            HGVS:
            6.

            rs1483265799 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              21:36132023 (GRCh38)
              21:37504321 (GRCh37)
              Canonical SPDI:
              NC_000021.9:36132022:C:A
              Gene:
              CBR3-AS1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1473295332 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                21:36132730 (GRCh38)
                21:37505028 (GRCh37)
                Canonical SPDI:
                NC_000021.9:36132729:T:A
                Gene:
                CBR3-AS1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,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:
                8.

                rs1472739925 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  21:36131829 (GRCh38)
                  21:37504127 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:36131828:A:G
                  Gene:
                  CBR3-AS1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000019/5 (TOPMED)
                  G=0.000036/5 (GnomAD)
                  G=0.000156/1 (1000Genomes)
                  G=0.000546/1 (Korea1K)
                  G=0.001027/3 (KOREAN)
                  HGVS:
                  9.

                  rs1466487926 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    21:36131795 (GRCh38)
                    21:37504093 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:36131794:G:A,NC_000021.9:36131794:G:C
                    Gene:
                    CBR3-AS1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1462818216 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      21:36132161 (GRCh38)
                      21:37504459 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:36132160:A:G
                      Gene:
                      CBR3-AS1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1462018720 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        21:36132773 (GRCh38)
                        21:37505071 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:36132772:T:G
                        Gene:
                        CBR3-AS1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1459601519 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          21:36131860 (GRCh38)
                          21:37504158 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:36131859:T:C,NC_000021.9:36131859:T:G
                          Gene:
                          CBR3-AS1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          T=0.5/1 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs1459516005 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            21:36132510 (GRCh38)
                            21:37504808 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:36132509:G:A
                            Gene:
                            CBR3-AS1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,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:
                            14.

                            rs1458551427 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              21:36132844 (GRCh38)
                              21:37505142 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:36132843:T:C,NC_000021.9:36132843:T:G
                              Gene:
                              CBR3-AS1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1458017595 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                21:36132380 (GRCh38)
                                21:37504678 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:36132379:A:G
                                Gene:
                                CBR3-AS1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1457875237 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  21:36133759 (GRCh38)
                                  21:37506057 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:36133758:A:C
                                  Gene:
                                  CBR3 (Varview), CBR3-AS1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000019/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1457022413 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    21:36132245 (GRCh38)
                                    21:37504543 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:36132244:G:A
                                    Gene:
                                    CBR3-AS1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1453523724 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      21:36132016 (GRCh38)
                                      21:37504314 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:36132015:T:C
                                      Gene:
                                      CBR3-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant
                                      HGVS:
                                      19.

                                      rs1453083268 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        21:36132854 (GRCh38)
                                        21:37505152 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:36132853:G:A,NC_000021.9:36132853:G:C
                                        Gene:
                                        CBR3-AS1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000108/2 (ALFA)
                                        A=0.000034/9 (TOPMED)
                                        A=0.000064/9 (GnomAD)
                                        A=0.000446/2 (Estonian)
                                        HGVS:
                                        20.

                                        rs1445629266 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          21:36132864 (GRCh38)
                                          21:37505162 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:36132863:G:A
                                          Gene:
                                          CBR3-AS1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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