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Items: 1 to 20 of 4141

1.

rs1491587535 has merged into rs112935232 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CGCGCG>-,CG,CGCG,CGCGCGCG [Show Flanks]
    Chromosome:
    3:195584157 (GRCh38)
    3:195311028 (GRCh37)
    Canonical SPDI:
    NC_000003.12:195584152:CGCGCGCGCG:CGCG,NC_000003.12:195584152:CGCGCGCGCG:CGCGCG,NC_000003.12:195584152:CGCGCGCGCG:CGCGCGCG,NC_000003.12:195584152:CGCGCGCGCG:CGCGCGCGCGCG
    Gene:
    APOD (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CGCGCGCGCGCG=0./0 (ALFA)
    -=0.00819/15 (Korea1K)
    -=0.1/4 (GENOME_DK)
    -=0.11235/433 (ALSPAC)
    HGVS:
    2.

    rs1491445950 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TC>- [Show Flanks]
      Chromosome:
      3:195584152 (GRCh38)
      3:195311023 (GRCh37)
      Canonical SPDI:
      NC_000003.12:195584151:TC:
      Gene:
      APOD (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.00109/7 (1000Genomes)
      -=0.00299/244 (GnomAD)
      HGVS:
      3.

      rs1491403504 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->TG [Show Flanks]
        Chromosome:
        3:195584152 (GRCh38)
        3:195311024 (GRCh37)
        Canonical SPDI:
        NC_000003.12:195584152::TG
        Gene:
        APOD (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TG=0.002951/35 (ALFA)
        TG=0.003393/458 (GnomAD)
        HGVS:
        4.

        rs1490710096 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          3:195585364 (GRCh38)
          3:195312235 (GRCh37)
          Canonical SPDI:
          NC_000003.12:195585363:T:A,NC_000003.12:195585363:T:C
          Gene:
          APOD (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1490604348 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:195577842 (GRCh38)
            3:195304713 (GRCh37)
            Canonical SPDI:
            NC_000003.12:195577841:T:C
            Gene:
            APOD (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1490481047 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              3:195584842 (GRCh38)
              3:195311713 (GRCh37)
              Canonical SPDI:
              NC_000003.12:195584841:G:A
              Gene:
              APOD (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1490419757 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                3:195573660 (GRCh38)
                3:195300531 (GRCh37)
                Canonical SPDI:
                NC_000003.12:195573659:A:C,NC_000003.12:195573659:A:G
                Gene:
                APOD (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000132/2 (ALFA)
                G=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                C=0.000446/2 (Estonian)
                HGVS:
                8.

                rs1490385502 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:195571819 (GRCh38)
                  3:195298690 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:195571818:C:T
                  Gene:
                  APOD (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490233118 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:195569840 (GRCh38)
                    3:195296711 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:195569839:C:T
                    Gene:
                    APOD (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490129800 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      3:195578418 (GRCh38)
                      3:195305289 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:195578417:T:A
                      Gene:
                      APOD (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490114730 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:195577211 (GRCh38)
                        3:195304082 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:195577210:A:G
                        Gene:
                        APOD (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:
                        12.

                        rs1489976141 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AC>- [Show Flanks]
                          Chromosome:
                          3:195585194 (GRCh38)
                          3:195312065 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:195585192:CAC:C
                          Gene:
                          APOD (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1489507171 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            3:195577964 (GRCh38)
                            3:195304835 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:195577963:T:A
                            Gene:
                            APOD (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489453995 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              3:195576836 (GRCh38)
                              3:195303707 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:195576835:A:G
                              Gene:
                              APOD (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1489240559 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                3:195585040 (GRCh38)
                                3:195311911 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:195585039:A:G
                                Gene:
                                APOD (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1488726595 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  3:195571831 (GRCh38)
                                  3:195298702 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:195571830:G:A,NC_000003.12:195571830:G:T
                                  Gene:
                                  APOD (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488471419 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:195576349 (GRCh38)
                                    3:195303220 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:195576348:T:C
                                    Gene:
                                    APOD (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488043663 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:195575302 (GRCh38)
                                      3:195302173 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:195575301:C:T
                                      Gene:
                                      APOD (Varview)
                                      Functional Consequence:
                                      intron_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:
                                      19.

                                      rs1487971003 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        3:195584070 (GRCh38)
                                        3:195310941 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:195584069:C:G
                                        Gene:
                                        APOD (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000132/2 (ALFA)
                                        G=0.000029/4 (GnomAD)
                                        G=0.000446/2 (Estonian)
                                        HGVS:
                                        20.

                                        rs1487880071 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:195578163 (GRCh38)
                                          3:195305034 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:195578162:G:A
                                          Gene:
                                          APOD (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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