U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 213

1.

rs1490520408 has merged into rs920155356 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TTTT,TTTTT [Show Flanks]
    Chromosome:
    2:87455472 (GRCh38)
    2:87754991 (GRCh37)
    Canonical SPDI:
    NC_000002.12:87455461:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:87455461:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:87455461:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:87455461:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
    Gene:
    CYTOR (Varview), LINC01943 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    TT=0.000007/1 (GnomAD)
    T=0.000814/14 (TOMMO)
    HGVS:
    NC_000002.12:g.87455472_87455474del, NC_000002.12:g.87455473_87455474del, NC_000002.12:g.87455474dup, NC_000002.12:g.87455473_87455474dup, NC_000002.11:g.87754991_87754993del, NC_000002.11:g.87754992_87754993del, NC_000002.11:g.87754993dup, NC_000002.11:g.87754992_87754993dup, NR_024205.3:n.46_48del, NR_024205.3:n.47_48del, NR_024205.3:n.48dup, NR_024205.3:n.47_48dup, NR_024205.2:n.46_48del, NR_024205.2:n.47_48del, NR_024205.2:n.48dup, NR_024205.2:n.47_48dup, NR_024205.1:n.18_20del, NR_024205.1:n.19_20del, NR_024205.1:n.20dup, NR_024205.1:n.19_20dup, NM_052871.3:c.-222_-220del, NM_052871.3:c.-221_-220del, NM_052871.3:c.-220dup, NM_052871.3:c.-221_-220dup, NR_024204.2:n.46_48del, NR_024204.2:n.47_48del, NR_024204.2:n.48dup, NR_024204.2:n.47_48dup, NR_024204.1:n.18_20del, NR_024204.1:n.19_20del, NR_024204.1:n.20dup, NR_024204.1:n.19_20dup, NR_024206.2:n.46_48del, NR_024206.2:n.47_48del, NR_024206.2:n.48dup, NR_024206.2:n.47_48dup, NR_024206.1:n.18_20del, NR_024206.1:n.19_20del, NR_024206.1:n.20dup, NR_024206.1:n.19_20dup, NM_052871.2:c.-222_-220del, NM_052871.2:c.-221_-220del, NM_052871.2:c.-220dup, NM_052871.2:c.-221_-220dup, NR_146461.1:n.46_48del, NR_146461.1:n.47_48del, NR_146461.1:n.48dup, NR_146461.1:n.47_48dup
    2.

    rs1489315554 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:87455603 (GRCh38)
      2:87755122 (GRCh37)
      Canonical SPDI:
      NC_000002.12:87455602:A:G
      Gene:
      CYTOR (Varview), LINC01943 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1487574761 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:87480241 (GRCh38)
        2:87779760 (GRCh37)
        Canonical SPDI:
        NC_000002.12:87480240:G:A
        Gene:
        CYTOR (Varview), LINC01943 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000015/4 (TOPMED)
        A=0.000029/4 (GnomAD)
        HGVS:
        4.

        rs1483201679 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:87455641 (GRCh38)
          2:87755160 (GRCh37)
          Canonical SPDI:
          NC_000002.12:87455640:C:T
          Gene:
          CYTOR (Varview), LINC01943 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000084/1 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          6.

          rs1481702356 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            2:87455532 (GRCh38)
            2:87755051 (GRCh37)
            Canonical SPDI:
            NC_000002.12:87455531:G:A,NC_000002.12:87455531:G:C
            Gene:
            CYTOR (Varview), LINC01943 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.00031/2 (1000Genomes)
            HGVS:
            7.

            rs1472604131 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:87455479 (GRCh38)
              2:87754998 (GRCh37)
              Canonical SPDI:
              NC_000002.12:87455478:C:T
              Gene:
              CYTOR (Varview), LINC01943 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.00208/34 (ALFA)
              HGVS:
              8.

              rs1467123444 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:87455459 (GRCh38)
                2:87754978 (GRCh37)
                Canonical SPDI:
                NC_000002.12:87455458:G:A
                Gene:
                CYTOR (Varview), LINC01943 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000038/10 (TOPMED)
                HGVS:
                9.

                rs1465772543 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  2:87455504 (GRCh38)
                  2:87755023 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:87455503:A:C,NC_000002.12:87455503:A:G
                  Gene:
                  CYTOR (Varview), LINC01943 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  10.

                  rs1464897319 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:87480324 (GRCh38)
                    2:87779843 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:87480323:C:T
                    Gene:
                    CYTOR (Varview), LINC01943 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1461957457 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      2:87480380 (GRCh38)
                      2:87779899 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:87480379:T:C
                      Gene:
                      CYTOR (Varview), LINC01943 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1459685484 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        2:87521368 (GRCh38)
                        2:87820887 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:87521367:A:G
                        Gene:
                        CYTOR (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        13.

                        rs1457063182 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CT [Show Flanks]
                          Chromosome:
                          2:87521295 (GRCh38)
                          2:87820815 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:87521295:CTCT:CTCTCT
                          Gene:
                          CYTOR (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          CTCTCT=0./0 (ALFA)
                          CT=0.000004/1 (TOPMED)
                          CT=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1457002178 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:87480335 (GRCh38)
                            2:87779854 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:87480334:G:A
                            Gene:
                            CYTOR (Varview), LINC01943 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            15.

                            rs1453208034 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:87480270 (GRCh38)
                              2:87779789 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:87480269:C:T
                              Gene:
                              CYTOR (Varview), LINC01943 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000224/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1453055973 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:87455626 (GRCh38)
                                2:87755145 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:87455625:G:A
                                Gene:
                                CYTOR (Varview), LINC01943 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000029/4 (GnomAD)
                                A=0.00003/8 (TOPMED)
                                HGVS:
                                17.

                                rs1451478376 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  2:87455454 (GRCh38)
                                  2:87754973 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:87455453:T:C,NC_000002.12:87455453:T:G
                                  Gene:
                                  CYTOR (Varview), LINC01943 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  G=0.00655/12 (Korea1K)
                                  HGVS:
                                  18.

                                  rs1450720070 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    2:87521342 (GRCh38)
                                    2:87820861 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:87521341:T:G
                                    Gene:
                                    CYTOR (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1446883849 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:87455575 (GRCh38)
                                      2:87755094 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:87455574:C:T
                                      Gene:
                                      CYTOR (Varview), LINC01943 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1445595637 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        2:87480314 (GRCh38)
                                        2:87779833 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:87480313:C:G
                                        Gene:
                                        CYTOR (Varview), LINC01943 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:

                                        Display Settings:

                                        Format
                                        Items per page
                                        Sort by

                                        Send to:

                                        Choose Destination

                                        Supplemental Content

                                        Find related data

                                        Recent activity