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Items: 1 to 20 of 3883

1.

rs1491587624 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    1:89265727 (GRCh38)
    1:89731410 (GRCh37)
    Canonical SPDI:
    NC_000001.11:89265726:CA:
    Gene:
    GBP5 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.06365/755 (ALFA)
    -=0.00415/120 (GnomAD)
    -=0.00452/127 (TOMMO)
    HGVS:
    2.

    rs1491490391 has merged into rs565298261 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
      Chromosome:
      1:89274252 (GRCh38)
      1:89739935 (GRCh37)
      Canonical SPDI:
      NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      GBP5 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAAA=0./0 (ALFA)
      -=0.0584/32 (NorthernSweden)
      -=0.221/1107 (1000Genomes)
      HGVS:
      NC_000001.11:g.89274252_89274256del, NC_000001.11:g.89274253_89274256del, NC_000001.11:g.89274254_89274256del, NC_000001.11:g.89274255_89274256del, NC_000001.11:g.89274256del, NC_000001.11:g.89274256dup, NC_000001.11:g.89274255_89274256dup, NC_000001.11:g.89274254_89274256dup, NC_000001.11:g.89274253_89274256dup, NC_000001.11:g.89274252_89274256dup, NC_000001.11:g.89274251_89274256dup, NC_000001.10:g.89739935_89739939del, NC_000001.10:g.89739936_89739939del, NC_000001.10:g.89739937_89739939del, NC_000001.10:g.89739938_89739939del, NC_000001.10:g.89739939del, NC_000001.10:g.89739939dup, NC_000001.10:g.89739938_89739939dup, NC_000001.10:g.89739937_89739939dup, NC_000001.10:g.89739936_89739939dup, NC_000001.10:g.89739935_89739939dup, NC_000001.10:g.89739934_89739939dup, NG_027112.2:g.36929_36933del, NG_027112.2:g.36930_36933del, NG_027112.2:g.36931_36933del, NG_027112.2:g.36932_36933del, NG_027112.2:g.36933del, NG_027112.2:g.36933dup, NG_027112.2:g.36932_36933dup, NG_027112.2:g.36931_36933dup, NG_027112.2:g.36930_36933dup, NG_027112.2:g.36929_36933dup, NG_027112.2:g.36928_36933dup, NG_052816.1:g.3618_3622del, NG_052816.1:g.3619_3622del, NG_052816.1:g.3620_3622del, NG_052816.1:g.3621_3622del, NG_052816.1:g.3622del, NG_052816.1:g.3622dup, NG_052816.1:g.3621_3622dup, NG_052816.1:g.3620_3622dup, NG_052816.1:g.3619_3622dup, NG_052816.1:g.3618_3622dup, NG_052816.1:g.3617_3622dup
      3.

      rs1491453546 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        1:89274239 (GRCh38)
        1:89739922 (GRCh37)
        Canonical SPDI:
        NC_000001.11:89274238:CA:
        Gene:
        GBP5 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1490743202 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:89265192 (GRCh38)
          1:89730875 (GRCh37)
          Canonical SPDI:
          NC_000001.11:89265191:G:A
          Gene:
          GBP5 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1490631636 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:89264683 (GRCh38)
            1:89730366 (GRCh37)
            Canonical SPDI:
            NC_000001.11:89264682:C:T
            Gene:
            GBP5 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1490580677 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:89265700 (GRCh38)
              1:89731383 (GRCh37)
              Canonical SPDI:
              NC_000001.11:89265699:C:T
              Gene:
              GBP5 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490475076 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                1:89272690 (GRCh38)
                1:89738373 (GRCh37)
                Canonical SPDI:
                NC_000001.11:89272689:G:T
                Gene:
                GBP5 (Varview)
                Functional Consequence:
                5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1490457517 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  1:89273524 (GRCh38)
                  1:89739207 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:89273523:C:A,NC_000001.11:89273523:C:T
                  Gene:
                  GBP5 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490397694 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:89262427 (GRCh38)
                    1:89728110 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:89262426:T:C
                    Gene:
                    GBP5 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1490286615 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:89262564 (GRCh38)
                      1:89728247 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:89262563:G:A
                      Gene:
                      GBP5 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1489983931 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        1:89272276 (GRCh38)
                        1:89737959 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:89272275:G:C
                        Gene:
                        GBP5 (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1489631522 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          1:89271074 (GRCh38)
                          1:89736757 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:89271073:C:G
                          Gene:
                          GBP5 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489526036 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:89271220 (GRCh38)
                            1:89736903 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:89271219:A:G
                            Gene:
                            GBP5 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489096457 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G,T [Show Flanks]
                              Chromosome:
                              1:89263516 (GRCh38)
                              1:89729199 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:89263515:A:C,NC_000001.11:89263515:A:G,NC_000001.11:89263515:A:T
                              Gene:
                              GBP5 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              G=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1489089404 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                1:89260152 (GRCh38)
                                1:89725836 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:89260152:C:CC
                                Gene:
                                GBP5 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CC=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.003333/2 (NorthernSweden)
                                HGVS:
                                16.

                                rs1488808287 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ATAT>- [Show Flanks]
                                  Chromosome:
                                  1:89266691 (GRCh38)
                                  1:89732374 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:89266688:ATATAT:AT
                                  Gene:
                                  GBP5 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  AT=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488634819 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:89272458 (GRCh38)
                                    1:89738141 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:89272457:C:T
                                    Gene:
                                    GBP5 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000026/7 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488634164 has merged into rs565298261 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      1:89274252 (GRCh38)
                                      1:89739935 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:89274239:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      GBP5 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAAAAA=0./0 (ALFA)
                                      -=0.0584/32 (NorthernSweden)
                                      -=0.221/1107 (1000Genomes)
                                      HGVS:
                                      NC_000001.11:g.89274252_89274256del, NC_000001.11:g.89274253_89274256del, NC_000001.11:g.89274254_89274256del, NC_000001.11:g.89274255_89274256del, NC_000001.11:g.89274256del, NC_000001.11:g.89274256dup, NC_000001.11:g.89274255_89274256dup, NC_000001.11:g.89274254_89274256dup, NC_000001.11:g.89274253_89274256dup, NC_000001.11:g.89274252_89274256dup, NC_000001.11:g.89274251_89274256dup, NC_000001.10:g.89739935_89739939del, NC_000001.10:g.89739936_89739939del, NC_000001.10:g.89739937_89739939del, NC_000001.10:g.89739938_89739939del, NC_000001.10:g.89739939del, NC_000001.10:g.89739939dup, NC_000001.10:g.89739938_89739939dup, NC_000001.10:g.89739937_89739939dup, NC_000001.10:g.89739936_89739939dup, NC_000001.10:g.89739935_89739939dup, NC_000001.10:g.89739934_89739939dup, NG_027112.2:g.36929_36933del, NG_027112.2:g.36930_36933del, NG_027112.2:g.36931_36933del, NG_027112.2:g.36932_36933del, NG_027112.2:g.36933del, NG_027112.2:g.36933dup, NG_027112.2:g.36932_36933dup, NG_027112.2:g.36931_36933dup, NG_027112.2:g.36930_36933dup, NG_027112.2:g.36929_36933dup, NG_027112.2:g.36928_36933dup, NG_052816.1:g.3618_3622del, NG_052816.1:g.3619_3622del, NG_052816.1:g.3620_3622del, NG_052816.1:g.3621_3622del, NG_052816.1:g.3622del, NG_052816.1:g.3622dup, NG_052816.1:g.3621_3622dup, NG_052816.1:g.3620_3622dup, NG_052816.1:g.3619_3622dup, NG_052816.1:g.3618_3622dup, NG_052816.1:g.3617_3622dup
                                      19.

                                      rs1488492549 [Homo sapiens]
                                        Variant type:
                                        SNV:
                                        Alleles:
                                        >
                                        Chromosome:
                                        no mapping
                                        Canonical SPDI:
                                        20.

                                        rs1488406961 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:89261305 (GRCh38)
                                          1:89726988 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:89261304:T:C
                                          Gene:
                                          GBP5 (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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