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Items: 1 to 20 of 1289

1.

rs1491491726 has merged into rs11302693 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    7:23488490 (GRCh38)
    7:23528109 (GRCh37)
    Canonical SPDI:
    NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23488479:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    RPS2P32 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    A=0.4069/236 (NorthernSweden)
    A=0.5/20 (GENOME_DK)
    HGVS:
    NC_000007.14:g.23488490_23488496del, NC_000007.14:g.23488492_23488496del, NC_000007.14:g.23488493_23488496del, NC_000007.14:g.23488494_23488496del, NC_000007.14:g.23488495_23488496del, NC_000007.14:g.23488496del, NC_000007.14:g.23488496dup, NC_000007.14:g.23488495_23488496dup, NC_000007.14:g.23488494_23488496dup, NC_000007.14:g.23488493_23488496dup, NC_000007.14:g.23488492_23488496dup, NC_000007.14:g.23488491_23488496dup, NC_000007.14:g.23488490_23488496dup, NC_000007.13:g.23528109_23528115del, NC_000007.13:g.23528111_23528115del, NC_000007.13:g.23528112_23528115del, NC_000007.13:g.23528113_23528115del, NC_000007.13:g.23528114_23528115del, NC_000007.13:g.23528115del, NC_000007.13:g.23528115dup, NC_000007.13:g.23528114_23528115dup, NC_000007.13:g.23528113_23528115dup, NC_000007.13:g.23528112_23528115dup, NC_000007.13:g.23528111_23528115dup, NC_000007.13:g.23528110_23528115dup, NC_000007.13:g.23528109_23528115dup
    2.

    rs1490505205 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      7:23488943 (GRCh38)
      7:23528563 (GRCh37)
      Canonical SPDI:
      NC_000007.14:23488943:T:TT
      Gene:
      RPS2P32 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TT=0./0 (ALFA)
      HGVS:
      3.

      rs1490187799 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        7:23489824 (GRCh38)
        7:23529443 (GRCh37)
        Canonical SPDI:
        NC_000007.14:23489823:C:T
        Gene:
        RPS2P32 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490160238 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          7:23489196 (GRCh38)
          7:23528815 (GRCh37)
          Canonical SPDI:
          NC_000007.14:23489195:T:G
          Gene:
          RPS2P32 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489417730 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            7:23491229 (GRCh38)
            7:23530848 (GRCh37)
            Canonical SPDI:
            NC_000007.14:23491228:T:G
            Gene:
            RPS2P32 (Varview)
            Functional Consequence:
            non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1488995877 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              7:23490422 (GRCh38)
              7:23530041 (GRCh37)
              Canonical SPDI:
              NC_000007.14:23490421:C:T
              Gene:
              RPS2P32 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.00008/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1488960219 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                7:23490186 (GRCh38)
                7:23529805 (GRCh37)
                Canonical SPDI:
                NC_000007.14:23490185:G:C
                Gene:
                RPS2P32 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1488892216 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  7:23489567 (GRCh38)
                  7:23529186 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:23489566:C:A,NC_000007.14:23489566:C:G
                  Gene:
                  RPS2P32 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  A=0.000022/3 (GnomAD)
                  HGVS:
                  9.

                  rs1488764200 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GGCTGGCTGTGTTGCCCAGGCTGG>- [Show Flanks]
                    Chromosome:
                    7:23490082 (GRCh38)
                    7:23529701 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:23490079:GGGGCTGGCTGTGTTGCCCAGGCTGG:GG
                    Gene:
                    RPS2P32 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GG=0./0 (ALFA)
                    -=0.000015/4 (TOPMED)
                    -=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1488493688 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      7:23490927 (GRCh38)
                      7:23530546 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:23490926:C:A
                      Gene:
                      RPS2P32 (Varview)
                      Functional Consequence:
                      non_coding_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:
                      11.

                      rs1487328261 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G,T [Show Flanks]
                        Chromosome:
                        7:23490451 (GRCh38)
                        7:23530070 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:23490450:C:A,NC_000007.14:23490450:C:G,NC_000007.14:23490450:C:T
                        Gene:
                        RPS2P32 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        A=0.00008/1 (GnomAD_exomes)
                        T=0.00041/4 (GnomAD)
                        HGVS:
                        12.

                        rs1486751018 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:23491527 (GRCh38)
                          7:23531146 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:23491526:G:A
                          Gene:
                          RPS2P32 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1486664437 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:23490974 (GRCh38)
                            7:23530593 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:23490973:G:A
                            Gene:
                            RPS2P32 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1485494669 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              7:23491786 (GRCh38)
                              7:23531405 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:23491785:C:T
                              Gene:
                              RPS2P32 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1485033224 has merged into rs201806846 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                7:23491422 (GRCh38)
                                7:23531041 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:23491410:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                RPS2P32 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAA=0./0 (ALFA)
                                HGVS:
                                NC_000007.14:g.23491422_23491428del, NC_000007.14:g.23491423_23491428del, NC_000007.14:g.23491424_23491428del, NC_000007.14:g.23491425_23491428del, NC_000007.14:g.23491426_23491428del, NC_000007.14:g.23491427_23491428del, NC_000007.14:g.23491428del, NC_000007.14:g.23491428dup, NC_000007.14:g.23491427_23491428dup, NC_000007.14:g.23491426_23491428dup, NC_000007.14:g.23491425_23491428dup, NC_000007.14:g.23491424_23491428dup, NC_000007.14:g.23491423_23491428dup, NC_000007.14:g.23491420_23491428dup, NC_000007.14:g.23491417_23491428dup, NC_000007.13:g.23531041_23531047del, NC_000007.13:g.23531042_23531047del, NC_000007.13:g.23531043_23531047del, NC_000007.13:g.23531044_23531047del, NC_000007.13:g.23531045_23531047del, NC_000007.13:g.23531046_23531047del, NC_000007.13:g.23531047del, NC_000007.13:g.23531047dup, NC_000007.13:g.23531046_23531047dup, NC_000007.13:g.23531045_23531047dup, NC_000007.13:g.23531044_23531047dup, NC_000007.13:g.23531043_23531047dup, NC_000007.13:g.23531042_23531047dup, NC_000007.13:g.23531039_23531047dup, NC_000007.13:g.23531036_23531047dup, NR_026676.1:n.1035_1041del, NR_026676.1:n.1036_1041del, NR_026676.1:n.1037_1041del, NR_026676.1:n.1038_1041del, NR_026676.1:n.1039_1041del, NR_026676.1:n.1040_1041del, NR_026676.1:n.1041del, NR_026676.1:n.1041dup, NR_026676.1:n.1040_1041dup, NR_026676.1:n.1039_1041dup, NR_026676.1:n.1038_1041dup, NR_026676.1:n.1037_1041dup, NR_026676.1:n.1036_1041dup, NR_026676.1:n.1033_1041dup, NR_026676.1:n.1030_1041dup
                                16.

                                rs1484786750 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ATACCTATAATACGTATATACGTATACGTATATACGTAT>-,ATACCTATAATACGTATATACGTATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTAT [Show Flanks]
                                  Chromosome:
                                  7:23488920 (GRCh38)
                                  7:23528539 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:23488903:ATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTAT:ATACGTATATACGTAT,NC_000007.14:23488903:ATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTAT:ATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTATATACCTATAATACGTATATACGTATACGTATATACGTAT
                                  Gene:
                                  RPS2P32 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ATACGTATATACGTAT=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1484071304 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    7:23489750 (GRCh38)
                                    7:23529369 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:23489749:G:T
                                    Gene:
                                    RPS2P32 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1483958151 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:23488742 (GRCh38)
                                      7:23528361 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:23488741:C:T
                                      Gene:
                                      RPS2P32 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483600238 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        7:23489647 (GRCh38)
                                        7:23529266 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:23489646:C:G
                                        Gene:
                                        RPS2P32 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000225/1 (ALFA)
                                        G=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1483449417 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->GCT [Show Flanks]
                                          Chromosome:
                                          7:23491718 (GRCh38)
                                          7:23531338 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:23491718:CT:CTGCT
                                          Gene:
                                          RPS2P32 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          CTGCT=0./0 (ALFA)
                                          CTG=0.000029/4 (GnomAD)
                                          HGVS:

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