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Items: 1 to 20 of 4848

1.

rs1491475010 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GG>- [Show Flanks]
    Chromosome:
    19:46619604 (GRCh38)
    19:47122861 (GRCh37)
    Canonical SPDI:
    NC_000019.10:46619603:GG:
    Gene:
    PTGIR (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.01052/39 (TWINSUK)
    -=0.0109/42 (ALSPAC)
    HGVS:
    2.

    rs1491455778 has merged into rs201900456 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      19:46622991 (GRCh38)
      19:47126248 (GRCh37)
      Canonical SPDI:
      NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46622980:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      PTGIR (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTT=0./0 (ALFA)
      -=0.15667/94 (NorthernSweden)
      HGVS:
      NC_000019.10:g.46622991_46622999del, NC_000019.10:g.46622992_46622999del, NC_000019.10:g.46622993_46622999del, NC_000019.10:g.46622994_46622999del, NC_000019.10:g.46622995_46622999del, NC_000019.10:g.46622996_46622999del, NC_000019.10:g.46622997_46622999del, NC_000019.10:g.46622998_46622999del, NC_000019.10:g.46622999del, NC_000019.10:g.46622999dup, NC_000019.10:g.46622998_46622999dup, NC_000019.10:g.46622997_46622999dup, NC_000019.10:g.46622995_46622999dup, NC_000019.10:g.46622981_46622999dup, NC_000019.9:g.47126248_47126256del, NC_000019.9:g.47126249_47126256del, NC_000019.9:g.47126250_47126256del, NC_000019.9:g.47126251_47126256del, NC_000019.9:g.47126252_47126256del, NC_000019.9:g.47126253_47126256del, NC_000019.9:g.47126254_47126256del, NC_000019.9:g.47126255_47126256del, NC_000019.9:g.47126256del, NC_000019.9:g.47126256dup, NC_000019.9:g.47126255_47126256dup, NC_000019.9:g.47126254_47126256dup, NC_000019.9:g.47126252_47126256dup, NC_000019.9:g.47126238_47126256dup
      3.

      rs1491318046 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        19:46619641 (GRCh38)
        19:47122898 (GRCh37)
        Canonical SPDI:
        NC_000019.10:46619639:AGA:A
        Gene:
        PTGIR (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:
        4.

        rs1491244118 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->AT [Show Flanks]
          Chromosome:
          19:46622981 (GRCh38)
          19:47126239 (GRCh37)
          Canonical SPDI:
          NC_000019.10:46622981:T:TAT
          Gene:
          PTGIR (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TAT=0./0 (ALFA)
          TA=0.00214/153 (GnomAD)
          HGVS:
          5.

          rs1491180778 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            19:46619546 (GRCh38)
            19:47122804 (GRCh37)
            Canonical SPDI:
            NC_000019.10:46619546::G
            Gene:
            PTGIR (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            G=0.00004/1 (TOMMO)
            G=0.00097/54 (GnomAD)
            HGVS:
            6.

            rs1491139508 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GGAAAGAAAGAA [Show Flanks]
              Chromosome:
              19:46619640 (GRCh38)
              19:47122898 (GRCh37)
              Canonical SPDI:
              NC_000019.10:46619640:GAAAGAAAGAA:GAAAGAAAGAAGGAAAGAAAGAA
              Gene:
              PTGIR (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              GAAAGAAAGAAGGAAAGAAAGAA=0./0 (ALFA)
              GAAAGAAAGAAG=0.000047/6 (GnomAD)
              HGVS:
              7.

              rs1491064727 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                19:46619518 (GRCh38)
                19:47122776 (GRCh37)
                Canonical SPDI:
                NC_000019.10:46619518::G
                Gene:
                PTGIR (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.00026/4 (TOMMO)
                G=0.00174/3 (Korea1K)
                G=0.01027/6 (NorthernSweden)
                HGVS:
                8.

                rs1491026328 has merged into rs56961349 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  19:46618028 (GRCh38)
                  19:47121285 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46618014:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  PTGIR (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTTT=0./0 (ALFA)
                  T=0.03/18 (NorthernSweden)
                  HGVS:
                  NC_000019.10:g.46618028_46618032del, NC_000019.10:g.46618029_46618032del, NC_000019.10:g.46618030_46618032del, NC_000019.10:g.46618031_46618032del, NC_000019.10:g.46618032del, NC_000019.10:g.46618032dup, NC_000019.10:g.46618031_46618032dup, NC_000019.10:g.46618030_46618032dup, NC_000019.10:g.46618029_46618032dup, NC_000019.10:g.46618028_46618032dup, NC_000019.10:g.46618027_46618032dup, NC_000019.10:g.46618026_46618032dup, NC_000019.10:g.46618024_46618032dup, NC_000019.10:g.46618023_46618032dup, NC_000019.9:g.47121285_47121289del, NC_000019.9:g.47121286_47121289del, NC_000019.9:g.47121287_47121289del, NC_000019.9:g.47121288_47121289del, NC_000019.9:g.47121289del, NC_000019.9:g.47121289dup, NC_000019.9:g.47121288_47121289dup, NC_000019.9:g.47121287_47121289dup, NC_000019.9:g.47121286_47121289dup, NC_000019.9:g.47121285_47121289dup, NC_000019.9:g.47121284_47121289dup, NC_000019.9:g.47121283_47121289dup, NC_000019.9:g.47121281_47121289dup, NC_000019.9:g.47121280_47121289dup
                  9.

                  rs1490863573 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    19:46618971 (GRCh38)
                    19:47122228 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:46618970:T:C
                    Gene:
                    PTGIR (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490858818 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAGAAAGAAA>- [Show Flanks]
                      Chromosome:
                      19:46619539 (GRCh38)
                      19:47122796 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:46619537:AAAGAAAGAAA:A
                      Gene:
                      PTGIR (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.00034/4 (ALFA)
                      -=0.00448/236 (GnomAD)
                      -=0.00626/11 (Korea1K)
                      -=0.01505/230 (TOMMO)
                      HGVS:
                      11.

                      rs1490591790 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        19:46612151 (GRCh38)
                        19:47115408 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:46612150:G:T
                        Gene:
                        PTGIR (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490438574 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TTTTG>- [Show Flanks]
                          Chromosome:
                          19:46613057 (GRCh38)
                          19:47116314 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:46613056:TTTTG:
                          Gene:
                          PTGIR (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.00169/46 (TOMMO)
                          HGVS:
                          13.

                          rs1490251082 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TTTTTTTTTTTTG>- [Show Flanks]
                            Chromosome:
                            19:46613049 (GRCh38)
                            19:47116306 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:46613048:TTTTTTTTTTTTG:
                            Gene:
                            PTGIR (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.00017/2 (ALFA)
                            HGVS:
                            14.

                            rs1490241836 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:46622615 (GRCh38)
                              19:47125872 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:46622614:T:C
                              Gene:
                              PTGIR (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490162149 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:46626228 (GRCh38)
                                19:47129485 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:46626227:T:C
                                Gene:
                                PTGIR (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1489989429 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:46610554 (GRCh38)
                                  19:47113811 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:46610553:A:G
                                  Gene:
                                  CALM3 (Varview), PTGIR (Varview), LOC124904729 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000216/4 (ALFA)
                                  G=0.000047/6 (GnomAD)
                                  G=0.00067/3 (Estonian)
                                  HGVS:
                                  17.

                                  rs1489975182 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    19:46613353 (GRCh38)
                                    19:47116610 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:46613352:C:A
                                    Gene:
                                    PTGIR (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489817295 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:46624499 (GRCh38)
                                      19:47127756 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:46624498:G:A
                                      Gene:
                                      PTGIR (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489708305 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        19:46617337 (GRCh38)
                                        19:47120594 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:46617336:T:C
                                        Gene:
                                        PTGIR (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000021/3 (GnomAD)
                                        C=0.000026/7 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489635976 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          GAGAG>- [Show Flanks]
                                          Chromosome:
                                          19:46619579 (GRCh38)
                                          19:47122836 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:46619578:GAGAG:
                                          Gene:
                                          PTGIR (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          -=0.00059/7 (ALFA)
                                          -=0.0006/61 (GnomAD)
                                          -=0.014385/240 (TOMMO)
                                          HGVS:

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