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Items: 1 to 20 of 44

1.

rs1487364555 has merged into rs879958305 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    13:57152636 (GRCh38)
    13:57726770 (GRCh37)
    Canonical SPDI:
    NC_000013.11:57152635:A:C,NC_000013.11:57152635:A:G
    Gene:
    PRR20C (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.0154/154 (ALFA)
    G=0.0263/2 (Korea1K)
    A=0.0417/2 (SGDP_PRJ)
    G=0.0556/83 (TOMMO)
    G=0.458/131 (KOREAN)
    HGVS:
    2.

    rs1473113322 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TCAG>- [Show Flanks]
      Chromosome:
      13:57152859 (GRCh38)
      13:57726993 (GRCh37)
      Canonical SPDI:
      NC_000013.11:57152858:TCAG:
      Gene:
      PRR20C (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00396/47 (ALFA)
      HGVS:
      3.

      rs1472232847 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        13:57152646 (GRCh38)
        13:57726780 (GRCh37)
        Canonical SPDI:
        NC_000013.11:57152645:C:G
        Gene:
        PRR20C (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.01981/235 (ALFA)
        C=0./0 (SGDP_PRJ)
        HGVS:
        4.

        rs1464727342 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GCCCCGCCCCCCCC>- [Show Flanks]
          Chromosome:
          13:57152866 (GRCh38)
          13:57727000 (GRCh37)
          Canonical SPDI:
          NC_000013.11:57152862:CCCGCCCCGCCCCCCCC:CCC
          Gene:
          PRR20C (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          HGVS:
          5.

          rs1460663284 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            13:57153151 (GRCh38)
            13:57727285 (GRCh37)
            Canonical SPDI:
            NC_000013.11:57153150:C:T
            Gene:
            PRR20C (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1456664739 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              13:57152866 (GRCh38)
              13:57727000 (GRCh37)
              Canonical SPDI:
              NC_000013.11:57152865:G:C
              Gene:
              PRR20C (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.02228/238 (ALFA)
              C=0.09184/18 (KOREAN)
              HGVS:
              7.

              rs1421020558 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,G [Show Flanks]
                Chromosome:
                13:57152767 (GRCh38)
                13:57726901 (GRCh37)
                Canonical SPDI:
                NC_000013.11:57152766:T:A,NC_000013.11:57152766:T:G
                Gene:
                PRR20C (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1419720286 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>-,CC,CCC,CCCC,CCCCCCCCCCCCCCC [Show Flanks]
                  Chromosome:
                  13:57152863 (GRCh38)
                  13:57726997 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:57152862:CCC:CC,NC_000013.11:57152862:CCC:CCCC,NC_000013.11:57152862:CCC:CCCCC,NC_000013.11:57152862:CCC:CCCCCC,NC_000013.11:57152862:CCC:CCCCCCCCCCCCCCCCC
                  Gene:
                  PRR20C (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CCCC=0.01425/169 (ALFA)
                  -=0.00231/7 (TOMMO)
                  HGVS:
                  9.

                  rs1409847734 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    13:57152716 (GRCh38)
                    13:57726850 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:57152715:G:T
                    Gene:
                    PRR20C (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0./0 (SGDP_PRJ)
                    T=0.053/12 (KOREAN)
                    HGVS:
                    10.

                    rs1409742887 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      13:57152895 (GRCh38)
                      13:57727029 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:57152894:T:C
                      Gene:
                      PRR20C (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.04392/521 (ALFA)
                      T=0./0 (SGDP_PRJ)
                      C=0.01639/2 (Korea1K)
                      C=0.10658/165 (TOMMO)
                      C=0.13542/52 (KOREAN)
                      HGVS:
                      11.

                      rs1396532364 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        13:57153126 (GRCh38)
                        13:57727260 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:57153125:T:C
                        Gene:
                        PRR20C (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.00059/7 (ALFA)
                        HGVS:
                        12.

                        rs1374844921 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          13:57152968 (GRCh38)
                          13:57727102 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:57152967:G:A
                          Gene:
                          PRR20C (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.05901/700 (ALFA)
                          A=0.00111/2 (TOMMO)
                          A=0.09343/37 (KOREAN)
                          HGVS:
                          13.

                          rs1366658639 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            13:57152886 (GRCh38)
                            13:57727020 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:57152885:C:A
                            Gene:
                            PRR20C (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.10934/1297 (ALFA)
                            C=0.08333/1 (SGDP_PRJ)
                            HGVS:
                            14.

                            rs1349560990 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              GCCC>-
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1338336124 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CTC>- [Show Flanks]
                                Chromosome:
                                13:57154522 (GRCh38)
                                13:57728656 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:57154518:CTCCTC:CTC
                                Gene:
                                PRR20C (Varview)
                                Functional Consequence:
                                intron_variant
                                HGVS:
                                16.

                                rs1336167174 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->AA [Show Flanks]
                                  Chromosome:
                                  13:57152890 (GRCh38)
                                  13:57727025 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:57152890::AA
                                  Gene:
                                  PRR20C (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  AA=0.00177/21 (ALFA)
                                  AA=0.00147/2 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1333454431 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    13:57152955 (GRCh38)
                                    13:57727089 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:57152954:C:A
                                    Gene:
                                    PRR20C (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.00497/59 (ALFA)
                                    C=0./0 (SGDP_PRJ)
                                    A=0.08065/35 (KOREAN)
                                    HGVS:
                                    18.

                                    rs1311519257 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      13:57153338 (GRCh38)
                                      13:57727472 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:57153337:T:C
                                      Gene:
                                      PRR20C (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.3842/5398 (ALFA)
                                      T=0./0 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1305350309 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        13:57152871 (GRCh38)
                                        13:57727005 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:57152870:G:C
                                        Gene:
                                        PRR20C (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.00272/29 (ALFA)
                                        C=0.105/21 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1288515798 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          13:57152909 (GRCh38)
                                          13:57727043 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:57152908:C:G
                                          Gene:
                                          PRR20C (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.00034/4 (ALFA)
                                          HGVS:

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