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Links from Gene

Items: 1 to 20 of 3531

1.

rs1491547801 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TTCT [Show Flanks]
    Chromosome:
    19:44683056 (GRCh38)
    19:45186329 (GRCh37)
    Canonical SPDI:
    NC_000019.10:44683056:TCT:TCTTTCT
    Gene:
    CEACAM19 (Varview), LOC107985306 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TCTTTCT=0.00008/1 (ALFA)
    TCTT=0.00015/8 (GnomAD)
    HGVS:
    2.

    rs1491495609 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CC [Show Flanks]
      Chromosome:
      19:44683055 (GRCh38)
      19:45186328 (GRCh37)
      Canonical SPDI:
      NC_000019.10:44683055:C:CCC
      Gene:
      CEACAM19 (Varview), LOC107985306 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CCC=0./0 (ALFA)
      CC=0.000187/19 (GnomAD)
      HGVS:
      3.

      rs1491483276 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AC>- [Show Flanks]
        Chromosome:
        19:44683055 (GRCh38)
        19:45186327 (GRCh37)
        Canonical SPDI:
        NC_000019.10:44683054:AC:
        Gene:
        CEACAM19 (Varview), LOC107985306 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491244876 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CG>- [Show Flanks]
          Chromosome:
          19:44675097 (GRCh38)
          19:45178369 (GRCh37)
          Canonical SPDI:
          NC_000019.10:44675095:GCG:G
          Gene:
          CEACAM19 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1490925668 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            19:44678514 (GRCh38)
            19:45181786 (GRCh37)
            Canonical SPDI:
            NC_000019.10:44678513:G:A,NC_000019.10:44678513:G:T
            Gene:
            CEACAM19 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490395158 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              19:44670227 (GRCh38)
              19:45173499 (GRCh37)
              Canonical SPDI:
              NC_000019.10:44670226:A:G
              Gene:
              CEACAM19 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,genic_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:
              7.

              rs1490142867 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                19:44680971 (GRCh38)
                19:45184243 (GRCh37)
                Canonical SPDI:
                NC_000019.10:44680970:G:A,NC_000019.10:44680970:G:C
                Gene:
                CEACAM19 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by cluster
                HGVS:
                8.

                rs1490022762 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:44675315 (GRCh38)
                  19:45178587 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:44675314:C:T
                  Gene:
                  CEACAM19 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489832963 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:44672029 (GRCh38)
                    19:45175301 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:44672028:G:A
                    Gene:
                    CEACAM19 (Varview)
                    Functional Consequence:
                    intron_variant
                    HGVS:
                    10.

                    rs1489320679 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      19:44670449 (GRCh38)
                      19:45173721 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:44670448:A:G
                      Gene:
                      CEACAM19 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000015/4 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1489239217 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:44684100 (GRCh38)
                        19:45187372 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:44684099:C:T
                        Gene:
                        CEACAM19 (Varview), LOC107985306 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1489187549 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G,T [Show Flanks]
                          Chromosome:
                          19:44683055 (GRCh38)
                          19:45186327 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:44683054:A:C,NC_000019.10:44683054:A:G,NC_000019.10:44683054:A:T
                          Gene:
                          CEACAM19 (Varview), LOC107985306 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          C=0.000059/6 (GnomAD)
                          T=0.000478/8 (TOMMO)
                          T=0.03833/112 (KOREAN)
                          A=0.5/2 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs1488925217 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:44679011 (GRCh38)
                            19:45182283 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:44679010:G:A
                            Gene:
                            CEACAM19 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1488919105 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:44680977 (GRCh38)
                              19:45184249 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:44680976:C:T
                              Gene:
                              CEACAM19 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000014/2 (GnomAD)
                              T=0.000015/4 (TOPMED)
                              T=0.000312/2 (1000Genomes)
                              T=0.000691/2 (KOREAN)
                              T=0.001982/33 (TOMMO)
                              T=0.002183/4 (Korea1K)
                              HGVS:
                              15.

                              rs1488912161 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                19:44684625 (GRCh38)
                                19:45187897 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:44684624:C:G
                                Gene:
                                CEACAM19 (Varview), LOC107985306 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488543228 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  19:44678075 (GRCh38)
                                  19:45181347 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:44678074:C:G
                                  Gene:
                                  CEACAM19 (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:
                                  17.

                                  rs1488288233 has merged into rs777312584 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    T>-,TT [Show Flanks]
                                    Chromosome:
                                    19:44674568 (GRCh38)
                                    19:45177840 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:44674567:TTTTTTTT:TTTTTTT,NC_000019.10:44674567:TTTTTTTT:TTTTTTTTT
                                    Gene:
                                    CEACAM19 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTT=0./0 (ALFA)
                                    -=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488182478 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      19:44675325 (GRCh38)
                                      19:45178597 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:44675324:A:G
                                      Gene:
                                      CEACAM19 (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:
                                      19.

                                      rs1487881032 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:44674891 (GRCh38)
                                        19:45178163 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:44674890:C:T
                                        Gene:
                                        CEACAM19 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487279765 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          19:44683079 (GRCh38)
                                          19:45186351 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:44683078:T:C
                                          Gene:
                                          CEACAM19 (Varview), LOC107985306 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,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:

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