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Items: 1 to 20 of 5680

1.

rs1490781122 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:73391222 (GRCh38)
    11:73102267 (GRCh37)
    Canonical SPDI:
    NC_000011.10:73391221:T:C
    Gene:
    RELT (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    2.

    rs1490742714 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      11:73376344 (GRCh38)
      11:73087389 (GRCh37)
      Canonical SPDI:
      NC_000011.10:73376343:C:G
      Gene:
      RELT (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490646140 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        11:73384795 (GRCh38)
        11:73095840 (GRCh37)
        Canonical SPDI:
        NC_000011.10:73384794:GG:G
        Gene:
        RELT (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GG=0.000071/1 (ALFA)
        -=0.000011/3 (TOPMED)
        -=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1490596049 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          11:73382667 (GRCh38)
          11:73093712 (GRCh37)
          Canonical SPDI:
          NC_000011.10:73382666:G:T
          Gene:
          RELT (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,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:
          5.

          rs1490419381 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            11:73397940 (GRCh38)
            11:73108985 (GRCh37)
            Canonical SPDI:
            NC_000011.10:73397939:C:A
            Gene:
            RELT (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1490197558 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              11:73375912 (GRCh38)
              11:73086957 (GRCh37)
              Canonical SPDI:
              NC_000011.10:73375911:C:G
              Gene:
              RELT (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489827418 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CATG [Show Flanks]
                Chromosome:
                11:73385890 (GRCh38)
                11:73096936 (GRCh37)
                Canonical SPDI:
                NC_000011.10:73385890:GCATG:GCATGCATG
                Gene:
                RELT (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                GCAT=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489798086 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:73387852 (GRCh38)
                  11:73098897 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:73387851:G:A
                  Gene:
                  RELT (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489752837 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:73376888 (GRCh38)
                    11:73087933 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:73376887:C:T
                    Gene:
                    RELT (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1489298885 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      11:73387902 (GRCh38)
                      11:73098947 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:73387901:C:G,NC_000011.10:73387901:C:T
                      Gene:
                      RELT (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489282775 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:73389119 (GRCh38)
                        11:73100164 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:73389118:A:G
                        Gene:
                        RELT (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489124111 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          11:73395883 (GRCh38)
                          11:73106928 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:73395882:C:G
                          Gene:
                          RELT (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000011/3 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1489037401 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:73388923 (GRCh38)
                            11:73099968 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:73388922:C:T
                            Gene:
                            RELT (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489021924 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              11:73381609 (GRCh38)
                              11:73092654 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:73381608:A:G,NC_000011.10:73381608:A:T
                              Gene:
                              RELT (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1488764532 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:73396549 (GRCh38)
                                11:73107594 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:73396548:C:T
                                Gene:
                                RELT (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488734113 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  11:73388751 (GRCh38)
                                  11:73099796 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:73388750:C:A
                                  Gene:
                                  RELT (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488713827 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    11:73396681 (GRCh38)
                                    11:73107726 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:73396680:A:C
                                    Gene:
                                    RELT (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488539812 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:73381251 (GRCh38)
                                      11:73092296 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:73381250:G:A
                                      Gene:
                                      RELT (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488492862 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:73384819 (GRCh38)
                                        11:73095864 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:73384818:A:G
                                        Gene:
                                        RELT (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,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:
                                        20.

                                        rs1488419711 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          11:73375422 (GRCh38)
                                          11:73086467 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:73375421:C:A
                                          Gene:
                                          RELT (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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