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Links from Gene

Items: 1 to 20 of 1000

1.

rs1491134121 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    14:22971115 (GRCh38)
    14:23440324 (GRCh37)
    Canonical SPDI:
    NC_000014.9:22971114:CA:
    Gene:
    AJUBA (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00025/3 (ALFA)
    HGVS:
    2.

    rs1490573800 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:22982903 (GRCh38)
      14:23452112 (GRCh37)
      Canonical SPDI:
      NC_000014.9:22982902:G:A
      Gene:
      AJUBA (Varview), AJUBA-DT (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490269830 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        14:22977968 (GRCh38)
        14:23447177 (GRCh37)
        Canonical SPDI:
        NC_000014.9:22977967:A:C
        Gene:
        AJUBA (Varview), LOC124903287 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.00599/71 (ALFA)
        C=0.00078/22 (TOMMO)
        C=0.04227/122 (KOREAN)
        HGVS:
        4.

        rs1489800128 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          14:22972859 (GRCh38)
          14:23442068 (GRCh37)
          Canonical SPDI:
          NC_000014.9:22972858:C:A,NC_000014.9:22972858:C:T
          Gene:
          AJUBA (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1489592745 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            14:22976627 (GRCh38)
            14:23445836 (GRCh37)
            Canonical SPDI:
            NC_000014.9:22976626:C:G
            Gene:
            AJUBA (Varview), LOC124903287 (Varview)
            Functional Consequence:
            upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000224/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000223/1 (Estonian)
            HGVS:
            6.

            rs1489521817 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              14:22971631 (GRCh38)
              14:23440840 (GRCh37)
              Canonical SPDI:
              NC_000014.9:22971630:T:C
              Gene:
              AJUBA (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1489088433 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                14:22981945 (GRCh38)
                14:23451155 (GRCh37)
                Canonical SPDI:
                NC_000014.9:22981945:GGGGGG:GGGGGGG
                Gene:
                AJUBA (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.00004/1 (TOMMO)
                HGVS:
                8.

                rs1489019636 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:22980219 (GRCh38)
                  14:23449428 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:22980218:A:G
                  Gene:
                  AJUBA (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=0.00005/7 (GnomAD)
                  HGVS:
                  9.

                  rs1488718002 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    14:22975069 (GRCh38)
                    14:23444278 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:22975068:G:A
                    Gene:
                    AJUBA (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1488433750 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AATA>- [Show Flanks]
                      Chromosome:
                      14:22971137 (GRCh38)
                      14:23440346 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:22971135:AAATA:A
                      Gene:
                      AJUBA (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1488405191 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        14:22972381 (GRCh38)
                        14:23441590 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:22972380:C:T
                        Gene:
                        AJUBA (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1488399030 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          14:22978493 (GRCh38)
                          14:23447702 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:22978492:G:A
                          Gene:
                          AJUBA (Varview), LOC124903287 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000142/2 (ALFA)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1488055032 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            14:22971886 (GRCh38)
                            14:23441095 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:22971885:A:G
                            Gene:
                            AJUBA (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1487841578 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              14:22978294 (GRCh38)
                              14:23447503 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:22978293:G:A
                              Gene:
                              AJUBA (Varview), LOC124903287 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1487570257 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                14:22973289 (GRCh38)
                                14:23442498 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:22973288:A:G
                                Gene:
                                AJUBA (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1487560758 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  14:22970817 (GRCh38)
                                  14:23440026 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:22970816:C:A
                                  Gene:
                                  AJUBA (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.00049/8 (ALFA)
                                  A=0.025/73 (KOREAN)
                                  HGVS:
                                  17.

                                  rs1487496923 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    14:22974184 (GRCh38)
                                    14:23443393 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:22974183:C:G,NC_000014.9:22974183:C:T
                                    Gene:
                                    AJUBA (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1487054254 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      14:22979208 (GRCh38)
                                      14:23448417 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:22979207:A:C
                                      Gene:
                                      AJUBA (Varview), LOC124903287 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000142/2 (ALFA)
                                      C=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486909840 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:22970799 (GRCh38)
                                        14:23440008 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:22970798:A:G
                                        Gene:
                                        AJUBA (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.0007/3 (ALFA)
                                        G=0.0007/2 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1486843879 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          14:22971361 (GRCh38)
                                          14:23440570 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:22971360:T:C
                                          Gene:
                                          AJUBA (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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