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Items: 1 to 20 of 16052

1.

rs1491488753 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GC>- [Show Flanks]
    Chromosome:
    6:75441839 (GRCh38)
    6:76151555 (GRCh37)
    Canonical SPDI:
    NC_000006.12:75441838:GC:
    Gene:
    FILIP1 (Varview), LOC101928540 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.000422/5 (ALFA)
    -=0.000008/1 (GnomAD)
    HGVS:
    2.

    rs1491475780 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->CTCTCTCTCT [Show Flanks]
      Chromosome:
      6:75457612 (GRCh38)
      6:76167329 (GRCh37)
      Canonical SPDI:
      NC_000006.12:75457612::CTCTCTCTCT
      Gene:
      FILIP1 (Varview), LOC101928540 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      HGVS:
      3.

      rs1491386107 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AG [Show Flanks]
        Chromosome:
        6:75397489 (GRCh38)
        6:76107206 (GRCh37)
        Canonical SPDI:
        NC_000006.12:75397489:G:GAG
        Gene:
        FILIP1 (Varview), LOC101928540 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        GAG=0./0 (ALFA)
        GA=0.00003/2 (GnomAD)
        HGVS:
        4.

        rs1491270591 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CG>- [Show Flanks]
          Chromosome:
          6:75457648 (GRCh38)
          6:76167364 (GRCh37)
          Canonical SPDI:
          NC_000006.12:75457647:CG:
          Gene:
          FILIP1 (Varview), LOC101928540 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          -=0.0043/16 (TWINSUK)
          -=0.006/23 (ALSPAC)
          HGVS:
          5.

          rs1491146630 has merged into rs1426246317 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CC>-,C,CCC [Show Flanks]
            Chromosome:
            6:75441845 (GRCh38)
            6:76151561 (GRCh37)
            Canonical SPDI:
            NC_000006.12:75441839:CCCCCCC:CCCCC,NC_000006.12:75441839:CCCCCCC:CCCCCC,NC_000006.12:75441839:CCCCCCC:CCCCCCCC
            Gene:
            FILIP1 (Varview), LOC101928540 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CCCCCC=0./0 (ALFA)
            C=0.000048/5 (GnomAD)
            HGVS:
            6.

            rs1490998673 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              6:75414505 (GRCh38)
              6:76124221 (GRCh37)
              Canonical SPDI:
              NC_000006.12:75414504:T:A
              Gene:
              FILIP1 (Varview), LOC101928540 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490972611 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                6:75427900 (GRCh38)
                6:76137616 (GRCh37)
                Canonical SPDI:
                NC_000006.12:75427899:C:A,NC_000006.12:75427899:C:G,NC_000006.12:75427899:C:T
                Gene:
                FILIP1 (Varview), MIR4463 (Varview), LOC101928540 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1490886622 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:75458030 (GRCh38)
                  6:76167746 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:75458029:C:T
                  Gene:
                  FILIP1 (Varview), LOC101928540 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,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:
                  9.

                  rs1490880467 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:75401999 (GRCh38)
                    6:76111715 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:75401998:G:A
                    Gene:
                    FILIP1 (Varview), LOC101928540 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490880020 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:75383761 (GRCh38)
                      6:76093477 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:75383760:A:G
                      Gene:
                      FILIP1 (Varview), LOC101928540 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,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:
                      11.

                      rs1490860632 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        A>- [Show Flanks]
                        Chromosome:
                        6:75459256 (GRCh38)
                        6:76168972 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:75459255:AAA:AA
                        Gene:
                        FILIP1 (Varview), LOC101928540 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AA=0./0 (ALFA)
                        -=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1490851952 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          6:75400765 (GRCh38)
                          6:76110481 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:75400764:A:T
                          Gene:
                          FILIP1 (Varview), LOC101928540 (Varview), LOC124901509 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490783047 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:75419179 (GRCh38)
                            6:76128895 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:75419178:C:T
                            Gene:
                            FILIP1 (Varview), LOC101928540 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,genic_downstream_transcript_variant,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.

                            rs1490744584 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              6:75436198 (GRCh38)
                              6:76145914 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:75436197:C:A
                              Gene:
                              FILIP1 (Varview), LOC101928540 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490735045 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:75453106 (GRCh38)
                                6:76162822 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:75453105:C:T
                                Gene:
                                FILIP1 (Varview), LOC101928540 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490717834 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  6:75435135 (GRCh38)
                                  6:76144851 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:75435134:G:C
                                  Gene:
                                  FILIP1 (Varview), LOC101928540 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000684/2 (KOREAN)
                                  C=0.000991/17 (TOMMO)
                                  C=0.001092/2 (Korea1K)
                                  HGVS:
                                  17.

                                  rs1490678961 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:75455579 (GRCh38)
                                    6:76165295 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:75455578:T:C
                                    Gene:
                                    FILIP1 (Varview), LOC101928540 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000142/2 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490607056 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:75437925 (GRCh38)
                                      6:76147641 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:75437924:T:C
                                      Gene:
                                      FILIP1 (Varview), LOC101928540 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490522296 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        6:75397706 (GRCh38)
                                        6:76107422 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:75397705:T:A
                                        Gene:
                                        FILIP1 (Varview), LOC101928540 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490506889 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:75442034 (GRCh38)
                                          6:76151750 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:75442033:G:A
                                          Gene:
                                          FILIP1 (Varview), LOC101928540 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.00011/2 (TOMMO)
                                          A=0.00103/3 (KOREAN)
                                          HGVS:

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