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Items: 1 to 20 of 3355

1.

rs1491175182 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CGTT [Show Flanks]
    Chromosome:
    19:41679629 (GRCh38)
    19:42183561 (GRCh37)
    Canonical SPDI:
    NC_000019.10:41679629:TT:TTCGTT
    Gene:
    CEACAM7 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTCGTT=0./0 (ALFA)
    TTCG=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490937091 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      19:41673801 (GRCh38)
      19:42177729 (GRCh37)
      Canonical SPDI:
      NC_000019.10:41673800:C:G
      Gene:
      CEACAM7 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490674074 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:41682638 (GRCh38)
        19:42186569 (GRCh37)
        Canonical SPDI:
        NC_000019.10:41682637:G:A
        Gene:
        CEACAM7 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490101576 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:41679759 (GRCh38)
          19:42183691 (GRCh37)
          Canonical SPDI:
          NC_000019.10:41679758:A:G
          Gene:
          CEACAM7 (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)
          G=0.000035/1 (TOMMO)
          HGVS:
          5.

          rs1490029938 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            19:41680528 (GRCh38)
            19:42184459 (GRCh37)
            Canonical SPDI:
            NC_000019.10:41680527:C:G
            Gene:
            CEACAM7 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1489816627 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              19:41687756 (GRCh38)
              19:42191685 (GRCh37)
              Canonical SPDI:
              NC_000019.10:41687755:G:A,NC_000019.10:41687755:G:T
              Gene:
              CEACAM7 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              T=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1489743145 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:41687226 (GRCh38)
                19:42191157 (GRCh37)
                Canonical SPDI:
                NC_000019.10:41687225:G:A
                Gene:
                CEACAM7 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489711593 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  19:41688311 (GRCh38)
                  19:42192240 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:41688310:C:G
                  Gene:
                  CEACAM7 (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:
                  9.

                  rs1489589242 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:41683492 (GRCh38)
                    19:42187423 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:41683491:C:T
                    Gene:
                    CEACAM7 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489567381 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      19:41675065 (GRCh38)
                      19:42178993 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:41675064:G:T
                      Gene:
                      CEACAM7 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000019/5 (TOPMED)
                      T=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1489515954 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        19:41676263 (GRCh38)
                        19:42180191 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:41676262:A:C
                        Gene:
                        CEACAM7 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000026/7 (TOPMED)
                        C=0.000036/5 (GnomAD)
                        HGVS:
                        12.

                        rs1489358722 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:41683103 (GRCh38)
                          19:42187034 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:41683102:A:G
                          Gene:
                          CEACAM7 (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:
                          13.

                          rs1488965677 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            19:41682501 (GRCh38)
                            19:42186432 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:41682500:A:G,NC_000019.10:41682500:A:T
                            Gene:
                            CEACAM7 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1488651325 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:41679638 (GRCh38)
                              19:42183570 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:41679637:T:C
                              Gene:
                              CEACAM7 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000011/3 (TOPMED)
                              C=0.000015/2 (GnomAD)
                              HGVS:
                              15.

                              rs1488485108 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                19:41675449 (GRCh38)
                                19:42179377 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:41675448:C:G
                                Gene:
                                CEACAM7 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1488478239 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:41681630 (GRCh38)
                                  19:42185561 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:41681629:C:T
                                  Gene:
                                  CEACAM7 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488408619 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    19:41682728 (GRCh38)
                                    19:42186659 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:41682727:C:G
                                    Gene:
                                    CEACAM7 (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:
                                    18.

                                    rs1488204128 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:41685898 (GRCh38)
                                      19:42189829 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:41685897:G:A
                                      Gene:
                                      CEACAM7 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488049817 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:41677404 (GRCh38)
                                        19:42181332 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:41677403:C:T
                                        Gene:
                                        CEACAM7 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000075/3 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        T=0.000446/2 (Estonian)
                                        HGVS:
                                        20.

                                        rs1487999680 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          19:41678483 (GRCh38)
                                          19:42182411 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:41678482:C:G
                                          Gene:
                                          CEACAM7 (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:

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