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Links from Gene

Items: 1 to 20 of 9578

1.

rs1491348622 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GT [Show Flanks]
    Chromosome:
    6:53068638 (GRCh38)
    6:52933437 (GRCh37)
    Canonical SPDI:
    NC_000006.12:53068638:T:TGT
    Gene:
    FBXO9 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TGT=0./0 (ALFA)
    TG=0.000004/1 (TOPMED)
    TG=0.000071/1 (GnomAD)
    HGVS:
    2.

    rs1491319203 has merged into rs10667878 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
      Chromosome:
      6:53068648 (GRCh38)
      6:52933446 (GRCh37)
      Canonical SPDI:
      NC_000006.12:53068637:ATATATATATATAT:ATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATATATATATAT,NC_000006.12:53068637:ATATATATATATAT:ATATATATATATATATATATAT
      Gene:
      FBXO9 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ATATATATATATATATATAT=0./0 (ALFA)
      -=0.1409/603 (Estonian)
      -=0.1881/942 (1000Genomes)
      -=0.35/14 (GENOME_DK)
      HGVS:
      3.

      rs1491317425 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        ->G
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491067654 has merged into rs1554184080 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          6:53068098 (GRCh38)
          6:52932896 (GRCh37)
          Canonical SPDI:
          NC_000006.12:53068097:CT:
          Gene:
          FBXO9 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.000253/3 (ALFA)
          -=0.000162/43 (TOPMED)
          -=0.000321/14 (GnomAD)
          -=0.002513/32 (TOMMO)
          -=0.003109/5 (Korea1K)
          HGVS:
          5.

          rs1490967529 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            6:53074362 (GRCh38)
            6:52939160 (GRCh37)
            Canonical SPDI:
            NC_000006.12:53074361:G:C
            Gene:
            FBXO9 (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:
            6.

            rs1490867858 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              6:53059098 (GRCh38)
              6:52923896 (GRCh37)
              Canonical SPDI:
              NC_000006.12:53059097:A:
              Gene:
              CILK1 (Varview), FBXO9 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1490750942 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:53091560 (GRCh38)
                6:52956358 (GRCh37)
                Canonical SPDI:
                NC_000006.12:53091559:G:A
                Gene:
                FBXO9 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490638697 has merged into rs1186449811 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAA>-,AAA [Show Flanks]
                  Chromosome:
                  6:53100186 (GRCh38)
                  6:52964984 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:53100182:AAAAAAA:AAA,NC_000006.12:53100182:AAAAAAA:AAAAAA
                  Gene:
                  FBXO9 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAA=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490608181 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    6:53101296 (GRCh38)
                    6:52966094 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:53101295:G:C
                    Gene:
                    FBXO9 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490593150 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      6:53089694 (GRCh38)
                      6:52954492 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:53089693:C:G
                      Gene:
                      FBXO9 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000224/1 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000223/1 (Estonian)
                      HGVS:
                      11.

                      rs1490535276 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:53084488 (GRCh38)
                        6:52949286 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:53084487:G:A
                        Gene:
                        FBXO9 (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1490467261 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          6:53075746 (GRCh38)
                          6:52940545 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:53075746::A
                          Gene:
                          FBXO9 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000084/1 (ALFA)
                          A=0.000009/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490455101 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            6:53069432 (GRCh38)
                            6:52934230 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:53069431:A:G
                            Gene:
                            FBXO9 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490450378 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              6:53060689 (GRCh38)
                              6:52925487 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:53060688:C:A
                              Gene:
                              CILK1 (Varview), FBXO9 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1490372901 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                6:53059593 (GRCh38)
                                6:52924391 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:53059592:G:T
                                Gene:
                                CILK1 (Varview), FBXO9 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1490249641 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  6:53066182 (GRCh38)
                                  6:52930980 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:53066181:G:T
                                  Gene:
                                  FBXO9 (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:
                                  17.

                                  rs1490171818 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:53074922 (GRCh38)
                                    6:52939720 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:53074921:G:A
                                    Gene:
                                    FBXO9 (Varview)
                                    Functional Consequence:
                                    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:
                                    18.

                                    rs1490141091 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      C>A
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1490123650 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:53075004 (GRCh38)
                                        6:52939802 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:53075003:T:C
                                        Gene:
                                        FBXO9 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490110159 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          6:53091218 (GRCh38)
                                          6:52956016 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:53091217:G:A,NC_000006.12:53091217:G:C
                                          Gene:
                                          FBXO9 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:

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