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Items: 1 to 20 of 9031

1.

rs1491500924 has merged into rs11296499 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    10:125827980 (GRCh38)
    10:127516549 (GRCh37)
    Canonical SPDI:
    NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    BCCIP (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000010.11:g.125827980_125827992del, NC_000010.11:g.125827981_125827992del, NC_000010.11:g.125827982_125827992del, NC_000010.11:g.125827983_125827992del, NC_000010.11:g.125827984_125827992del, NC_000010.11:g.125827985_125827992del, NC_000010.11:g.125827986_125827992del, NC_000010.11:g.125827987_125827992del, NC_000010.11:g.125827988_125827992del, NC_000010.11:g.125827989_125827992del, NC_000010.11:g.125827990_125827992del, NC_000010.11:g.125827991_125827992del, NC_000010.11:g.125827992del, NC_000010.11:g.125827992dup, NC_000010.11:g.125827991_125827992dup, NC_000010.11:g.125827990_125827992dup, NC_000010.11:g.125827989_125827992dup, NC_000010.11:g.125827988_125827992dup, NC_000010.11:g.125827969_125827992dup, NC_000010.11:g.125827968_125827992dup, NC_000010.11:g.125827992_125827993insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.125827992_125827993insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.127516549_127516561del, NC_000010.10:g.127516550_127516561del, NC_000010.10:g.127516551_127516561del, NC_000010.10:g.127516552_127516561del, NC_000010.10:g.127516553_127516561del, NC_000010.10:g.127516554_127516561del, NC_000010.10:g.127516555_127516561del, NC_000010.10:g.127516556_127516561del, NC_000010.10:g.127516557_127516561del, NC_000010.10:g.127516558_127516561del, NC_000010.10:g.127516559_127516561del, NC_000010.10:g.127516560_127516561del, NC_000010.10:g.127516561del, NC_000010.10:g.127516561dup, NC_000010.10:g.127516560_127516561dup, NC_000010.10:g.127516559_127516561dup, NC_000010.10:g.127516558_127516561dup, NC_000010.10:g.127516557_127516561dup, NC_000010.10:g.127516538_127516561dup, NC_000010.10:g.127516537_127516561dup, NC_000010.10:g.127516561_127516562insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.127516561_127516562insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011557.2:g.289_301del, NG_011557.2:g.290_301del, NG_011557.2:g.291_301del, NG_011557.2:g.292_301del, NG_011557.2:g.293_301del, NG_011557.2:g.294_301del, NG_011557.2:g.295_301del, NG_011557.2:g.296_301del, NG_011557.2:g.297_301del, NG_011557.2:g.298_301del, NG_011557.2:g.299_301del, NG_011557.2:g.300_301del, NG_011557.2:g.301del, NG_011557.2:g.301dup, NG_011557.2:g.300_301dup, NG_011557.2:g.299_301dup, NG_011557.2:g.298_301dup, NG_011557.2:g.297_301dup, NG_011557.2:g.278_301dup, NG_011557.2:g.277_301dup, NG_011557.2:g.301_302insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011557.2:g.301_302insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029095.1:g.9446_9458del, NG_029095.1:g.9447_9458del, NG_029095.1:g.9448_9458del, NG_029095.1:g.9449_9458del, NG_029095.1:g.9450_9458del, NG_029095.1:g.9451_9458del, NG_029095.1:g.9452_9458del, NG_029095.1:g.9453_9458del, NG_029095.1:g.9454_9458del, NG_029095.1:g.9455_9458del, NG_029095.1:g.9456_9458del, NG_029095.1:g.9457_9458del, NG_029095.1:g.9458del, NG_029095.1:g.9458dup, NG_029095.1:g.9457_9458dup, NG_029095.1:g.9456_9458dup, NG_029095.1:g.9455_9458dup, NG_029095.1:g.9454_9458dup, NG_029095.1:g.9435_9458dup, NG_029095.1:g.9434_9458dup, NG_029095.1:g.9458_9459insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029095.1:g.9458_9459insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491485283 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      10:125827121 (GRCh38)
      10:127515690 (GRCh37)
      Canonical SPDI:
      NC_000010.11:125827118:AGAG:AG
      Gene:
      BCCIP (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGAG=0./0 (ALFA)
      -=0./0 (TWINSUK)
      -=0.000171/24 (GnomAD)
      -=0.000185/49 (TOPMED)
      -=0.000259/1 (ALSPAC)
      -=0.00046/8 (TOMMO)
      -=0.001718/9 (1000Genomes)
      -=0.002729/5 (Korea1K)
      HGVS:
      3.

      rs1491405910 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        10:125827967 (GRCh38)
        10:127516536 (GRCh37)
        Canonical SPDI:
        NC_000010.11:125827966:GA:
        Gene:
        BCCIP (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1491356130 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          10:125841944 (GRCh38)
          10:127530513 (GRCh37)
          Canonical SPDI:
          NC_000010.11:125841943:GA:
          Gene:
          DHX32 (Varview), BCCIP (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency
          MAF:
          -=0.00001/2 (GnomAD_exomes)
          -=0.000019/2 (ExAC)
          HGVS:
          5.

          rs1491273842 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            10:125851920 (GRCh38)
            10:127540489 (GRCh37)
            Canonical SPDI:
            NC_000010.11:125851919:CA:
            Gene:
            DHX32 (Varview), BCCIP (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.00405/15 (TWINSUK)
            -=0.00467/18 (ALSPAC)
            HGVS:
            6.

            rs1491091393 has merged into rs34263964 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>-,GTGT,GTGTGT,GTGTGTGTGTGT [Show Flanks]
              Chromosome:
              10:125841199 (GRCh38)
              10:127529768 (GRCh37)
              Canonical SPDI:
              NC_000010.11:125841187:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000010.11:125841187:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000010.11:125841187:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000010.11:125841187:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
              Gene:
              DHX32 (Varview), BCCIP (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGTGTGTGTGTGTGTGT=0./0 (ALFA)
              TGTGTGTGTG=0.000008/2 (TOPMED)
              TG=0.333036/1492 (Estonian)
              TG=0.335463/1680 (1000Genomes)
              TG=0.349699/349 (GoNL)
              TG=0.35/14 (GENOME_DK)
              TG=0.38/228 (NorthernSweden)
              TG=0.462878/7758 (TOMMO)
              TG=0.468341/858 (Korea1K)
              TG=0.485849/103 (Vietnamese)
              HGVS:
              7.

              rs1491033247 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                10:125835572 (GRCh38)
                10:127524142 (GRCh37)
                Canonical SPDI:
                NC_000010.11:125835572:T:TT
                Gene:
                BCCIP (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                TT=0./0 (ALFA)
                T=0.00005/2 (GnomAD)
                HGVS:
                8.

                rs1490884656 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:125839200 (GRCh38)
                  10:127527769 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:125839199:A:G
                  Gene:
                  DHX32 (Varview), BCCIP (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490648432 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    10:125855013 (GRCh38)
                    10:127543582 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:125855012:C:G
                    Gene:
                    DHX32 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1490583921 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:125831629 (GRCh38)
                      10:127520198 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:125831628:T:C
                      Gene:
                      BCCIP (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490516777 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:125844050 (GRCh38)
                        10:127532619 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:125844049:C:T
                        Gene:
                        DHX32 (Varview), BCCIP (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000198/3 (ALFA)
                        T=0.000008/2 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        T=0.000035/1 (TOMMO)
                        T=0.00067/3 (Estonian)
                        HGVS:
                        12.

                        rs1490395925 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:125838684 (GRCh38)
                          10:127527253 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:125838683:T:C
                          Gene:
                          DHX32 (Varview), BCCIP (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490380339 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:125837569 (GRCh38)
                            10:127526138 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:125837568:G:A
                            Gene:
                            DHX32 (Varview), BCCIP (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490297832 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              10:125855675 (GRCh38)
                              10:127544244 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:125855674:C:A
                              Gene:
                              DHX32 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1490226570 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                10:125843860 (GRCh38)
                                10:127532429 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:125843859:C:G,NC_000010.11:125843859:C:T
                                Gene:
                                DHX32 (Varview), BCCIP (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490191056 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  10:125846319 (GRCh38)
                                  10:127534888 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:125846318:G:T
                                  Gene:
                                  DHX32 (Varview), BCCIP (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490184879 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CAGAA>- [Show Flanks]
                                    Chromosome:
                                    10:125825374 (GRCh38)
                                    10:127513943 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:125825372:ACAGAA:A
                                    Gene:
                                    BCCIP (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490064942 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:125839739 (GRCh38)
                                      10:127528308 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:125839738:T:C
                                      Gene:
                                      DHX32 (Varview), BCCIP (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000043/6 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489867130 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        10:125847744 (GRCh38)
                                        10:127536313 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:125847743:T:A
                                        Gene:
                                        DHX32 (Varview), BCCIP (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489816267 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:125818657 (GRCh38)
                                          10:127507226 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:125818656:T:C
                                          Gene:
                                          UROS (Varview), MIR4484 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,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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