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Items: 1 to 20 of 3410

1.

rs1491472281 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    2:121726517 (GRCh38)
    2:122484093 (GRCh37)
    Canonical SPDI:
    NC_000002.12:121726516:CA:
    Gene:
    NIFK (Varview), NIFK-AS1 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491275428 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      2:121726517 (GRCh38)
      2:122484094 (GRCh37)
      Canonical SPDI:
      NC_000002.12:121726517::T
      Gene:
      NIFK (Varview), NIFK-AS1 (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.00006/1 (ALFA)
      T=0.00012/2 (TOMMO)
      HGVS:
      3.

      rs1491230100 has merged into rs34070901 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        2:121726527 (GRCh38)
        2:122484103 (GRCh37)
        Canonical SPDI:
        NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        NIFK (Varview), NIFK-AS1 (Varview)
        Functional Consequence:
        500B_downstream_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0./0 (ALFA)
        -=0.0184/71 (ALSPAC)
        -=0.0232/86 (TWINSUK)
        -=0.4429/2218 (1000Genomes)
        HGVS:
        NC_000002.12:g.121726527_121726535del, NC_000002.12:g.121726529_121726535del, NC_000002.12:g.121726530_121726535del, NC_000002.12:g.121726531_121726535del, NC_000002.12:g.121726532_121726535del, NC_000002.12:g.121726533_121726535del, NC_000002.12:g.121726534_121726535del, NC_000002.12:g.121726535del, NC_000002.12:g.121726535dup, NC_000002.12:g.121726534_121726535dup, NC_000002.12:g.121726533_121726535dup, NC_000002.12:g.121726532_121726535dup, NC_000002.12:g.121726531_121726535dup, NC_000002.12:g.121726526_121726535dup, NC_000002.11:g.122484103_122484111del, NC_000002.11:g.122484105_122484111del, NC_000002.11:g.122484106_122484111del, NC_000002.11:g.122484107_122484111del, NC_000002.11:g.122484108_122484111del, NC_000002.11:g.122484109_122484111del, NC_000002.11:g.122484110_122484111del, NC_000002.11:g.122484111del, NC_000002.11:g.122484111dup, NC_000002.11:g.122484110_122484111dup, NC_000002.11:g.122484109_122484111dup, NC_000002.11:g.122484108_122484111dup, NC_000002.11:g.122484107_122484111dup, NC_000002.11:g.122484102_122484111dup
        4.

        rs1491015592 has merged into rs34070901 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          2:121726527 (GRCh38)
          2:122484103 (GRCh37)
          Canonical SPDI:
          NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:121726518:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          NIFK (Varview), NIFK-AS1 (Varview)
          Functional Consequence:
          500B_downstream_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTT=0./0 (ALFA)
          -=0.0184/71 (ALSPAC)
          -=0.0232/86 (TWINSUK)
          -=0.4429/2218 (1000Genomes)
          HGVS:
          NC_000002.12:g.121726527_121726535del, NC_000002.12:g.121726529_121726535del, NC_000002.12:g.121726530_121726535del, NC_000002.12:g.121726531_121726535del, NC_000002.12:g.121726532_121726535del, NC_000002.12:g.121726533_121726535del, NC_000002.12:g.121726534_121726535del, NC_000002.12:g.121726535del, NC_000002.12:g.121726535dup, NC_000002.12:g.121726534_121726535dup, NC_000002.12:g.121726533_121726535dup, NC_000002.12:g.121726532_121726535dup, NC_000002.12:g.121726531_121726535dup, NC_000002.12:g.121726526_121726535dup, NC_000002.11:g.122484103_122484111del, NC_000002.11:g.122484105_122484111del, NC_000002.11:g.122484106_122484111del, NC_000002.11:g.122484107_122484111del, NC_000002.11:g.122484108_122484111del, NC_000002.11:g.122484109_122484111del, NC_000002.11:g.122484110_122484111del, NC_000002.11:g.122484111del, NC_000002.11:g.122484111dup, NC_000002.11:g.122484110_122484111dup, NC_000002.11:g.122484109_122484111dup, NC_000002.11:g.122484108_122484111dup, NC_000002.11:g.122484107_122484111dup, NC_000002.11:g.122484102_122484111dup
          5.

          rs1490819969 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:121738362 (GRCh38)
            2:122495938 (GRCh37)
            Canonical SPDI:
            NC_000002.12:121738361:C:T
            Gene:
            NIFK (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490721895 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              2:121726646 (GRCh38)
              2:122484222 (GRCh37)
              Canonical SPDI:
              NC_000002.12:121726645:G:C
              Gene:
              NIFK (Varview), NIFK-AS1 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490628389 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                2:121738897 (GRCh38)
                2:122496473 (GRCh37)
                Canonical SPDI:
                NC_000002.12:121738896:T:A
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490492247 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:121733303 (GRCh38)
                  2:122490879 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:121733302:T:C
                  Gene:
                  NIFK (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1489364615 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    2:121730964 (GRCh38)
                    2:122488540 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:121730963:A:G
                    Gene:
                    NIFK (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000111/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1488797004 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:121734153 (GRCh38)
                      2:122491729 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:121734152:A:G
                      Gene:
                      NIFK (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488233403 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:121731853 (GRCh38)
                        2:122489429 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:121731852:C:T
                        Gene:
                        NIFK (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1488019385 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          2:121737678 (GRCh38)
                          2:122495254 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:121737677:C:
                          Gene:
                          NIFK (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1487249058 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:121736765 (GRCh38)
                            2:122494341 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:121736764:A:G
                            Gene:
                            NIFK (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1487221732 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              2:121737200 (GRCh38)
                              2:122494776 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:121737199:G:A,NC_000002.12:121737199:G:C
                              Gene:
                              NIFK (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1486918982 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:121732910 (GRCh38)
                                2:122490486 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:121732909:A:G
                                Gene:
                                NIFK (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.00026/4 (ALFA)
                                G=0.00007/1 (TOMMO)
                                HGVS:
                                16.

                                rs1486726443 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:121734237 (GRCh38)
                                  2:122491813 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:121734236:A:G
                                  Gene:
                                  NIFK (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000015/4 (TOPMED)
                                  G=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1486694207 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,T [Show Flanks]
                                    Chromosome:
                                    2:121733404 (GRCh38)
                                    2:122490980 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:121733403:A:C,NC_000002.12:121733403:A:T
                                    Gene:
                                    NIFK (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1486651912 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:121730303 (GRCh38)
                                      2:122487879 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:121730302:C:T
                                      Gene:
                                      NIFK (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00003/8 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486366208 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        2:121731847 (GRCh38)
                                        2:122489423 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:121731846:G:C
                                        Gene:
                                        NIFK (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.0002/1 (ALFA)
                                        C=0.0002/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1485716433 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:121730014 (GRCh38)
                                          2:122487590 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:121730013:A:G
                                          Gene:
                                          NIFK (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:

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