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Items: 1 to 20 of 1392

1.

rs1490699272 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    11:58622884 (GRCh38)
    11:58390357 (GRCh37)
    Canonical SPDI:
    NC_000011.10:58622883:C:G,NC_000011.10:58622883:C:T
    Gene:
    CNTF (Varview), ZFP91-CNTF (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by cluster
    HGVS:
    2.

    rs1490006256 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      11:58623855 (GRCh38)
      11:58391329 (GRCh37)
      Canonical SPDI:
      NC_000011.10:58623855:TTT:TTTT
      Gene:
      CNTF (Varview), ZFP91-CNTF (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTT=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      T=0.000156/1 (1000Genomes)
      T=0.004762/1 (Vietnamese)
      HGVS:
      3.

      rs1489445674 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:58620916 (GRCh38)
        11:58388389 (GRCh37)
        Canonical SPDI:
        NC_000011.10:58620915:G:A
        Gene:
        CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
        Functional Consequence:
        3_prime_UTR_variant,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:
        4.

        rs1488979340 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C,T [Show Flanks]
          Chromosome:
          11:58621178 (GRCh38)
          11:58388651 (GRCh37)
          Canonical SPDI:
          NC_000011.10:58621177:G:A,NC_000011.10:58621177:G:C,NC_000011.10:58621177:G:T
          Gene:
          CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1487740341 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:58625660 (GRCh38)
            11:58393133 (GRCh37)
            Canonical SPDI:
            NC_000011.10:58625659:G:A
            Gene:
            CNTF (Varview), ZFP91-CNTF (Varview)
            Functional Consequence:
            non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000049/13 (TOPMED)
            HGVS:
            6.

            rs1487337622 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              11:58621926 (GRCh38)
              11:58389399 (GRCh37)
              Canonical SPDI:
              NC_000011.10:58621925:T:C
              Gene:
              CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1487123436 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                11:58622155 (GRCh38)
                11:58389628 (GRCh37)
                Canonical SPDI:
                NC_000011.10:58622154:T:G
                Gene:
                CNTF (Varview), ZFP91-CNTF (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1486335726 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:58622012 (GRCh38)
                  11:58389485 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:58622011:A:G
                  Gene:
                  CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1485725906 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:58621156 (GRCh38)
                    11:58388629 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:58621155:G:A
                    Gene:
                    CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,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.

                    rs1485551831 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:58620831 (GRCh38)
                      11:58388304 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:58620830:A:G
                      Gene:
                      CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000011/3 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1485506060 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        11:58624948 (GRCh38)
                        11:58392421 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:58624947:T:C,NC_000011.10:58624947:T:G
                        Gene:
                        CNTF (Varview), ZFP91-CNTF (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000023/6 (TOPMED)
                        HGVS:
                        12.

                        rs1485457616 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TT>- [Show Flanks]
                          Chromosome:
                          11:58624948 (GRCh38)
                          11:58392421 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:58624946:TTT:T
                          Gene:
                          CNTF (Varview), ZFP91-CNTF (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1485355897 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:58622922 (GRCh38)
                            11:58390395 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:58622921:A:G
                            Gene:
                            CNTF (Varview), ZFP91-CNTF (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000026/7 (TOPMED)
                            G=0.000057/8 (GnomAD)
                            HGVS:
                            14.

                            rs1484840639 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              11:58624698 (GRCh38)
                              11:58392171 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:58624697:G:T
                              Gene:
                              CNTF (Varview), ZFP91-CNTF (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000142/2 (ALFA)
                              T=0.000029/4 (GnomAD)
                              T=0.000038/10 (TOPMED)
                              HGVS:
                              15.

                              rs1484746949 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:58620733 (GRCh38)
                                11:58388206 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:58620732:A:G
                                Gene:
                                CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1484695637 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  11:58621665 (GRCh38)
                                  11:58389138 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:58621664:CCC:CC
                                  Gene:
                                  CNTF (Varview), ZFP91 (Varview), ZFP91-CNTF (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CC=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484452895 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    11:58626092 (GRCh38)
                                    11:58393565 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:58626091:T:G
                                    Gene:
                                    CNTF (Varview), ZFP91-CNTF (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1484005528 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:58623303 (GRCh38)
                                      11:58390776 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:58623302:A:G
                                      Gene:
                                      CNTF (Varview), ZFP91-CNTF (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000023/6 (TOPMED)
                                      G=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483757070 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        11:58624048 (GRCh38)
                                        11:58391521 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:58624047:C:A
                                        Gene:
                                        CNTF (Varview), ZFP91-CNTF (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000084/1 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1483013010 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:58623965 (GRCh38)
                                          11:58391438 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:58623964:A:G
                                          Gene:
                                          CNTF (Varview), ZFP91-CNTF (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:

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