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Links from Nucleotide

Items: 1 to 20 of 5687

1.

rs1491552944 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TG,TTA [Show Flanks]
    Chromosome:
    1:36474415 (GRCh38)
    1:36940017 (GRCh37)
    Canonical SPDI:
    NC_000001.11:36474415::TG,NC_000001.11:36474415::TTA
    Gene:
    CSF3R (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TG=0./0 (ALFA)
    HGVS:
    2.

    rs1491152028 has merged into rs139134824 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
      Chromosome:
      1:36470820 (GRCh38)
      1:36936421 (GRCh37)
      Canonical SPDI:
      NC_000001.11:36470808:GTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000001.11:36470808:GTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000001.11:36470808:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000001.11:36470808:GTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG
      Gene:
      CSF3R (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTG=0./0 (ALFA)
      -=0.000042/11 (TOPMED)
      GT=0.001667/1 (NorthernSweden)
      GT=0.002004/2 (GoNL)
      GT=0.008482/38 (Estonian)
      GT=0.074016/474 (1000Genomes)
      GT=0.226134/3790 (TOMMO)
      GT=0.276201/506 (Korea1K)
      HGVS:
      3.

      rs1491123904 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TG>- [Show Flanks]
        Chromosome:
        1:36474415 (GRCh38)
        1:36940016 (GRCh37)
        Canonical SPDI:
        NC_000001.11:36474414:TG:
        Gene:
        CSF3R (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00042/5 (ALFA)
        HGVS:
        4.

        rs1491102877 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->A,C [Show Flanks]
          Chromosome:
          1:36482314 (GRCh38)
          1:36947916 (GRCh37)
          Canonical SPDI:
          NC_000001.11:36482314::A,NC_000001.11:36482314::C
          Gene:
          CSF3R (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1490872657 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            1:36475010 (GRCh38)
            1:36940611 (GRCh37)
            Canonical SPDI:
            NC_000001.11:36475009:C:
            Gene:
            CSF3R (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00025/4 (ALFA)
            HGVS:
            6.

            rs1490752861 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>-,TT [Show Flanks]
              Chromosome:
              1:36471057 (GRCh38)
              1:36936658 (GRCh37)
              Canonical SPDI:
              NC_000001.11:36471056:TTTTTTT:TTTTTT,NC_000001.11:36471056:TTTTTTT:TTTTTTTT
              Gene:
              CSF3R (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTT=0./0 (ALFA)
              -=0.000043/6 (GnomAD)
              -=0.003079/52 (TOMMO)
              -=0.014192/26 (Korea1K)
              HGVS:
              7.

              rs1490556629 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:36470540 (GRCh38)
                1:36936141 (GRCh37)
                Canonical SPDI:
                NC_000001.11:36470539:C:T
                Gene:
                CSF3R (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490552483 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:36473594 (GRCh38)
                  1:36939195 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:36473593:C:T
                  Gene:
                  CSF3R (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0./0 (GnomAD)
                  T=0.000012/3 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1490370553 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:36478730 (GRCh38)
                    1:36944331 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:36478729:G:A
                    Gene:
                    CSF3R (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000011/3 (TOPMED)
                    A=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1490177526 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:36478282 (GRCh38)
                      1:36943883 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:36478281:A:G
                      Gene:
                      CSF3R (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      12.

                      rs1489997651 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:36479128 (GRCh38)
                        1:36944729 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:36479127:C:T
                        Gene:
                        CSF3R (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000014/2 (GnomAD)
                        HGVS:
                        13.

                        rs1489755953 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:36471925 (GRCh38)
                          1:36937526 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:36471924:G:A
                          Gene:
                          CSF3R (Varview)
                          Functional Consequence:
                          intron_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.

                          rs1489683680 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            1:36476850 (GRCh38)
                            1:36942451 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:36476849:G:T
                            Gene:
                            CSF3R (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00008/1 (ALFA)
                            HGVS:
                            15.

                            rs1489468310 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G [Show Flanks]
                              Chromosome:
                              1:36487481 (GRCh38)
                              1:36953082 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:36487480:A:C,NC_000001.11:36487480:A:G
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              C=0.000337/46 (GnomAD)
                              HGVS:
                              16.

                              rs1489462022 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:36472901 (GRCh38)
                                1:36938502 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:36472900:A:G
                                Gene:
                                CSF3R (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                17.
                                18.

                                rs1489344600 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  1:36472287 (GRCh38)
                                  1:36937888 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:36472286:G:C
                                  Gene:
                                  CSF3R (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  19.

                                  rs1489178404 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:36467967 (GRCh38)
                                    1:36933568 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:36467966:G:A
                                    Gene:
                                    CSF3R (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    20.

                                    rs1489022430 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:36479844 (GRCh38)
                                      1:36945445 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:36479843:C:T
                                      Gene:
                                      CSF3R (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

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