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Items: 1 to 20 of 1000

1.

rs1491485421 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    19:51752838 (GRCh38)
    19:52256091 (GRCh37)
    Canonical SPDI:
    NC_000019.10:51752837:TA:
    Gene:
    FPR1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00008/1 (ALFA)
    HGVS:
    2.

    rs1491140355 has merged into rs35394943 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      19:51752848 (GRCh38)
      19:52256101 (GRCh37)
      Canonical SPDI:
      NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51752838:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      FPR1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAA=0./0 (ALFA)
      AAA=0.4862/2435 (1000Genomes)
      HGVS:
      NC_000019.10:g.51752848_51752861del, NC_000019.10:g.51752850_51752861del, NC_000019.10:g.51752851_51752861del, NC_000019.10:g.51752852_51752861del, NC_000019.10:g.51752853_51752861del, NC_000019.10:g.51752854_51752861del, NC_000019.10:g.51752855_51752861del, NC_000019.10:g.51752856_51752861del, NC_000019.10:g.51752857_51752861del, NC_000019.10:g.51752858_51752861del, NC_000019.10:g.51752859_51752861del, NC_000019.10:g.51752860_51752861del, NC_000019.10:g.51752861del, NC_000019.10:g.51752861dup, NC_000019.10:g.51752860_51752861dup, NC_000019.10:g.51752859_51752861dup, NC_000019.10:g.51752858_51752861dup, NC_000019.10:g.51752854_51752861dup, NC_000019.10:g.51752851_51752861dup, NC_000019.10:g.51752839_51752861A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.52256101_52256114del, NC_000019.9:g.52256103_52256114del, NC_000019.9:g.52256104_52256114del, NC_000019.9:g.52256105_52256114del, NC_000019.9:g.52256106_52256114del, NC_000019.9:g.52256107_52256114del, NC_000019.9:g.52256108_52256114del, NC_000019.9:g.52256109_52256114del, NC_000019.9:g.52256110_52256114del, NC_000019.9:g.52256111_52256114del, NC_000019.9:g.52256112_52256114del, NC_000019.9:g.52256113_52256114del, NC_000019.9:g.52256114del, NC_000019.9:g.52256114dup, NC_000019.9:g.52256113_52256114dup, NC_000019.9:g.52256112_52256114dup, NC_000019.9:g.52256111_52256114dup, NC_000019.9:g.52256107_52256114dup, NC_000019.9:g.52256104_52256114dup, NC_000019.9:g.52256092_52256114A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_023426.1:g.4046_4059del, NG_023426.1:g.4048_4059del, NG_023426.1:g.4049_4059del, NG_023426.1:g.4050_4059del, NG_023426.1:g.4051_4059del, NG_023426.1:g.4052_4059del, NG_023426.1:g.4053_4059del, NG_023426.1:g.4054_4059del, NG_023426.1:g.4055_4059del, NG_023426.1:g.4056_4059del, NG_023426.1:g.4057_4059del, NG_023426.1:g.4058_4059del, NG_023426.1:g.4059del, NG_023426.1:g.4059dup, NG_023426.1:g.4058_4059dup, NG_023426.1:g.4057_4059dup, NG_023426.1:g.4056_4059dup, NG_023426.1:g.4052_4059dup, NG_023426.1:g.4049_4059dup, NG_023426.1:g.4037_4059T[40]GTTTTTTTTTTTTTTTTTTTTTTTTT[1]
      3.

      rs1490965387 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:51745532 (GRCh38)
        19:52248785 (GRCh37)
        Canonical SPDI:
        NC_000019.10:51745531:C:T
        Gene:
        FPR1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        C=0.5/1 (SGDP_PRJ)
        HGVS:
        4.

        rs1490868300 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          19:51747525 (GRCh38)
          19:52250778 (GRCh37)
          Canonical SPDI:
          NC_000019.10:51747524:C:T
          Gene:
          FPR1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489945041 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            19:51746382 (GRCh38)
            19:52249635 (GRCh37)
            Canonical SPDI:
            NC_000019.10:51746381:G:A,NC_000019.10:51746381:G:C
            Gene:
            FPR1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000068/3 (ALFA)
            A=0.000008/2 (GnomAD_exomes)
            HGVS:
            6.

            rs1489911800 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              19:51751255 (GRCh38)
              19:52254509 (GRCh37)
              Canonical SPDI:
              NC_000019.10:51751255:CCCCC:CCCCCC
              Gene:
              FPR1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CCCCCC=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1489884571 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                19:51749371 (GRCh38)
                19:52252624 (GRCh37)
                Canonical SPDI:
                NC_000019.10:51749370:C:A,NC_000019.10:51749370:C:G,NC_000019.10:51749370:C:T
                Gene:
                FPR1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489707199 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:51746329 (GRCh38)
                  19:52249582 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:51746328:C:T
                  Gene:
                  FPR1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1489197408 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    19:51752349 (GRCh38)
                    19:52255602 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:51752348:A:T
                    Gene:
                    FPR1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1489046687 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      19:51752357 (GRCh38)
                      19:52255610 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:51752356:T:C
                      Gene:
                      FPR1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000015/4 (TOPMED)
                      C=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1488984663 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:51750289 (GRCh38)
                        19:52253542 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:51750288:T:C
                        Gene:
                        FPR1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488809004 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          19:51747931 (GRCh38)
                          19:52251184 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:51747930:G:C
                          Gene:
                          FPR1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1488684290 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:51751429 (GRCh38)
                            19:52254682 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:51751428:C:T
                            Gene:
                            FPR1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488586831 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              19:51750324 (GRCh38)
                              19:52253577 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:51750323:T:C
                              Gene:
                              FPR1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487740158 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:51750017 (GRCh38)
                                19:52253270 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:51750016:C:T
                                Gene:
                                FPR1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487703935 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:51750998 (GRCh38)
                                  19:52254251 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:51750997:G:A
                                  Gene:
                                  FPR1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486757327 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    19:51749550 (GRCh38)
                                    19:52252803 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:51749549:A:C
                                    Gene:
                                    FPR1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485795015 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:51751929 (GRCh38)
                                      19:52255182 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:51751928:G:A
                                      Gene:
                                      FPR1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000015/4 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484698724 has merged into rs1001909024 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CTCT>-,CTCTCT [Show Flanks]
                                        Chromosome:
                                        19:51749694 (GRCh38)
                                        19:52252947 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:51749688:TCTCTCTCT:TCTCT,NC_000019.10:51749688:TCTCTCTCT:TCTCTCTCTCT
                                        Gene:
                                        FPR1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TCTCTCTCTCT=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1483890230 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          19:51747388 (GRCh38)
                                          19:52250641 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:51747387:T:C
                                          Gene:
                                          FPR1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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