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Items: 1 to 20 of 1794

1.

rs1490765705 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:111874722 (GRCh38)
    11:111745446 (GRCh37)
    Canonical SPDI:
    NC_000011.10:111874721:C:T
    Gene:
    FDXACB1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000015/2 (GnomAD)
    T=0.000026/7 (TOPMED)
    HGVS:
    2.

    rs1490593408 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      11:111873685 (GRCh38)
      11:111744409 (GRCh37)
      Canonical SPDI:
      NC_000011.10:111873684:C:G
      Gene:
      FDXACB1 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490390330 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:111881256 (GRCh38)
        11:111751980 (GRCh37)
        Canonical SPDI:
        NC_000011.10:111881255:C:T
        Gene:
        C11orf1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000014/2 (GnomAD)
        T=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1489723801 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:111880713 (GRCh38)
          11:111751437 (GRCh37)
          Canonical SPDI:
          NC_000011.10:111880712:A:G
          Gene:
          C11orf1 (Varview), FDXACB1 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489672976 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            11:111879819 (GRCh38)
            11:111750543 (GRCh37)
            Canonical SPDI:
            NC_000011.10:111879818:C:G
            Gene:
            C11orf1 (Varview), FDXACB1 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000014/2 (GnomAD)
            G=0.00003/8 (TOPMED)
            HGVS:
            6.

            rs1489458854 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              11:111875809 (GRCh38)
              11:111746533 (GRCh37)
              Canonical SPDI:
              NC_000011.10:111875808:C:G,NC_000011.10:111875808:C:T
              Gene:
              FDXACB1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1487855162 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                11:111881167 (GRCh38)
                11:111751891 (GRCh37)
                Canonical SPDI:
                NC_000011.10:111881166:T:C,NC_000011.10:111881166:T:G
                Gene:
                C11orf1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1487169399 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:111873816 (GRCh38)
                  11:111744540 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:111873815:A:G
                  Gene:
                  FDXACB1 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1486312989 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:111878473 (GRCh38)
                    11:111749197 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:111878472:G:A
                    Gene:
                    C11orf1 (Varview), FDXACB1 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_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:
                    10.

                    rs1485655478 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:111879238 (GRCh38)
                      11:111749962 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:111879237:C:T
                      Gene:
                      C11orf1 (Varview), FDXACB1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1485103086 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        11:111879155 (GRCh38)
                        11:111749879 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:111879154:G:C
                        Gene:
                        C11orf1 (Varview), FDXACB1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1484890720 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          11:111874731 (GRCh38)
                          11:111745455 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:111874730:C:G,NC_000011.10:111874730:C:T
                          Gene:
                          FDXACB1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1484353358 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:111877512 (GRCh38)
                            11:111748236 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:111877511:C:T
                            Gene:
                            FDXACB1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00008/1 (ALFA)
                            T=0.02977/87 (KOREAN)
                            HGVS:
                            14.

                            rs1484259222 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              11:111876268 (GRCh38)
                              11:111746992 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:111876267:A:C
                              Gene:
                              FDXACB1 (Varview)
                              Functional Consequence:
                              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:
                              15.

                              rs1484101752 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                11:111881011 (GRCh38)
                                11:111751735 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:111881010:A:C
                                Gene:
                                C11orf1 (Varview), FDXACB1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000011/3 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1483800660 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  11:111877440 (GRCh38)
                                  11:111748164 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:111877439:T:C,NC_000011.10:111877439:T:G
                                  Gene:
                                  FDXACB1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1483322771 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    11:111875671 (GRCh38)
                                    11:111746395 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:111875670:C:A,NC_000011.10:111875670:C:T
                                    Gene:
                                    FDXACB1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1483139313 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      11:111878308 (GRCh38)
                                      11:111749032 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:111878307:C:A,NC_000011.10:111878307:C:G,NC_000011.10:111878307:C:T
                                      Gene:
                                      C11orf1 (Varview), FDXACB1 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1483088705 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        11:111877299 (GRCh38)
                                        11:111748023 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:111877298:A:C,NC_000011.10:111877298:A:G
                                        Gene:
                                        FDXACB1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1483021528 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          11:111880903 (GRCh38)
                                          11:111751627 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:111880902:A:T
                                          Gene:
                                          C11orf1 (Varview), FDXACB1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_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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