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Items: 1 to 20 of 1720

1.

rs1491512018 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    A>-,AA [Show Flanks]
    Chromosome:
    9:62836208 (GRCh38)
    9:66492032 (GRCh37)
    Canonical SPDI:
    NC_000009.12:62836207:AAAAAAA:AAAAAA,NC_000009.12:62836207:AAAAAAA:AAAAAAAA
    Gene:
    LOC100132249 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAA=0./0 (ALFA)
    -=0.000036/5 (GnomAD)
    -=0.000156/1 (1000Genomes)
    HGVS:
    2.

    rs1491279803 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GA>- [Show Flanks]
      Chromosome:
      9:62836207 (GRCh38)
      9:66492031 (GRCh37)
      Canonical SPDI:
      NC_000009.12:62836206:GA:
      Gene:
      LOC100132249 (Varview)
      Functional Consequence:
      non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1490830485 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        9:62835621 (GRCh38)
        9:66491445 (GRCh37)
        Canonical SPDI:
        NC_000009.12:62835620:A:C
        Gene:
        LOC100132249 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000084/1 (ALFA)
        C=0.000114/16 (GnomAD)
        C=0.000625/4 (1000Genomes)
        HGVS:
        4.

        rs1490337861 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:62835836 (GRCh38)
          9:66491660 (GRCh37)
          Canonical SPDI:
          NC_000009.12:62835835:G:A
          Gene:
          LOC100132249 (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1490086465 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            9:62838160 (GRCh38)
            9:66493984 (GRCh37)
            Canonical SPDI:
            NC_000009.12:62838159:C:A
            Gene:
            PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
            Functional Consequence:
            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.00843/100 (ALFA)
            A=0.03825/1081 (TOMMO)
            A=0.14897/435 (KOREAN)
            HGVS:
            6.

            rs1489508844 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              9:62838315 (GRCh38)
              9:66494140 (GRCh37)
              Canonical SPDI:
              NC_000009.12:62838315:G:GG
              Gene:
              PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
              Functional Consequence:
              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GG=0./0 (ALFA)
              G=0.000207/29 (GnomAD)
              HGVS:
              7.

              rs1488941653 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                9:62836719 (GRCh38)
                9:66492543 (GRCh37)
                Canonical SPDI:
                NC_000009.12:62836718:T:A
                Gene:
                PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                Functional Consequence:
                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1488892775 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  9:62837502 (GRCh38)
                  9:66493326 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:62837501:C:G
                  Gene:
                  PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000043/6 (GnomAD)
                  G=0.000071/1 (TOMMO)
                  HGVS:
                  9.

                  rs1488542786 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    9:62837248 (GRCh38)
                    9:66493072 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:62837247:T:A,NC_000009.12:62837247:T:C
                    Gene:
                    PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.00109/7 (1000Genomes)
                    A=0.00318/53 (TOMMO)
                    A=0.00491/9 (Korea1K)
                    A=0.00719/21 (KOREAN)
                    T=0.5/1 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs1488441858 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:62837721 (GRCh38)
                      9:66493545 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:62837720:C:T
                      Gene:
                      PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1488254311 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        C>- [Show Flanks]
                        Chromosome:
                        9:62838035 (GRCh38)
                        9:66493859 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:62838034:CC:C
                        Gene:
                        PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CC=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1488049487 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:62839799 (GRCh38)
                          9:66495623 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:62839798:G:A
                          Gene:
                          PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,2KB_upstream_variant,intron_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:
                          13.

                          rs1487866187 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            9:62837454 (GRCh38)
                            9:66493278 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:62837453:G:A,NC_000009.12:62837453:G:C
                            Gene:
                            PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.002951/35 (ALFA)
                            C=0.002046/283 (GnomAD)
                            C=0.015642/262 (TOMMO)
                            C=0.026694/78 (KOREAN)
                            C=0.030568/56 (Korea1K)
                            G=0.5/6 (SGDP_PRJ)
                            HGVS:
                            14.

                            rs1487834274 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:62837656 (GRCh38)
                              9:66493480 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:62837655:C:T
                              Gene:
                              PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487782532 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->G [Show Flanks]
                                Chromosome:
                                9:62838217 (GRCh38)
                                9:66494042 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:62838217:GGGGG:GGGGGG
                                Gene:
                                PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GGGGGG=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1487453527 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  9:62837990 (GRCh38)
                                  9:66493814 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:62837989:G:A,NC_000009.12:62837989:G:C
                                  Gene:
                                  PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.00008/1 (ALFA)
                                  C=0.00014/2 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1487205232 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,T [Show Flanks]
                                    Chromosome:
                                    9:62835003 (GRCh38)
                                    9:66490827 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:62835002:A:C,NC_000009.12:62835002:A:T
                                    Gene:
                                    LOC100132249 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    C=0.05099/149 (KOREAN)
                                    C=0.15801/4465 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1486802019 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CTCCGCGCCTGCACCCCCTCC>- [Show Flanks]
                                      Chromosome:
                                      9:62838408 (GRCh38)
                                      9:66494232 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:62838405:CCCTCCGCGCCTGCACCCCCTCC:CC
                                      Gene:
                                      PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      CC=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1486546104 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:62835788 (GRCh38)
                                        9:66491612 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:62835787:T:C
                                        Gene:
                                        LOC100132249 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000057/8 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1484985613 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TC>- [Show Flanks]
                                          Chromosome:
                                          9:62838426 (GRCh38)
                                          9:66494250 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:62838424:CTC:C
                                          Gene:
                                          PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.09568/1135 (ALFA)
                                          -=0.10021/1675 (TOMMO)
                                          HGVS:

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