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Links from Gene

Items: 1 to 20 of 7281

1.

rs1491577248 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->CCTGAATACAGCATGGGCAGGTGGGAAT,CCTGAATACAGCATGGGCAGGTGGGAATTTGTAGCTATGGAGCAG [Show Flanks]
    Chromosome:
    10:43396339 (GRCh38)
    10:43891788 (GRCh37)
    Canonical SPDI:
    NC_000010.11:43396339::CCTGAATACAGCATGGGCAGGTGGGAAT,NC_000010.11:43396339::CCTGAATACAGCATGGGCAGGTGGGAATTTGTAGCTATGGAGCAG
    Gene:
    HNRNPF (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCTGAATACAGCATGGGCAGGTGGGAATTTGTAGCTATGGAGCAG=0.0002/1 (ALFA)
    HGVS:
    2.

    rs1491466418 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      10:43397912 (GRCh38)
      10:43893361 (GRCh37)
      Canonical SPDI:
      NC_000010.11:43397912:T:TT
      Gene:
      HNRNPF (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      TT=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491391415 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TC>- [Show Flanks]
        Chromosome:
        10:43396342 (GRCh38)
        10:43891790 (GRCh37)
        Canonical SPDI:
        NC_000010.11:43396338:CTCTC:CTC
        Gene:
        HNRNPF (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        CTC=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1491275562 has merged into rs56118525 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
          Chromosome:
          10:43391305 (GRCh38)
          10:43886753 (GRCh37)
          Canonical SPDI:
          NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:43391292:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
          Gene:
          HNRNPF (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.275/11 (GENOME_DK)
          HGVS:
          5.

          rs1491207082 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CAGTGCAAGACTCTGTCTCA [Show Flanks]
            Chromosome:
            10:43391293 (GRCh38)
            10:43886742 (GRCh37)
            Canonical SPDI:
            NC_000010.11:43391293:A:ACAGTGCAAGACTCTGTCTCA
            Gene:
            HNRNPF (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            ACAGTGCAAGACTCTGTCTCA=0./0 (ALFA)
            HGVS:
            6.

            rs1491168199 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              10:43397977 (GRCh38)
              10:43893425 (GRCh37)
              Canonical SPDI:
              NC_000010.11:43397974:AGAG:AG
              Gene:
              HNRNPF (Varview)
              Functional Consequence:
              upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGAG=0.000498/7 (ALFA)
              -=0.000285/40 (GnomAD)
              -=0.000306/81 (TOPMED)
              -=0.000312/2 (1000Genomes)
              -=0.000519/2 (ALSPAC)
              -=0.000809/3 (TWINSUK)
              HGVS:
              7.

              rs1491139233 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                10:43397915 (GRCh38)
                10:43893363 (GRCh37)
                Canonical SPDI:
                NC_000010.11:43397911:ATATA:ATA
                Gene:
                HNRNPF (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                ATA=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1491059291 has merged into rs59258374 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
                  Chromosome:
                  10:43402902 (GRCh38)
                  10:43898350 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTT,NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTTTT,NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:43402894:TTTTTTTTTTT:TTTTTTTTTTTTT
                  Gene:
                  HNRNPF (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTT=0./0 (ALFA)
                  -=0.12202/451 (1000Genomes)
                  HGVS:
                  9.

                  rs1490940479 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:43411174 (GRCh38)
                    10:43906622 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:43411173:C:T
                    Gene:
                    HNRNPF (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490862203 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:43398086 (GRCh38)
                      10:43893534 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:43398085:G:T
                      Gene:
                      HNRNPF (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490837641 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TC>- [Show Flanks]
                        Chromosome:
                        10:43405073 (GRCh38)
                        10:43900521 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:43405071:CTC:C
                        Gene:
                        HNRNPF (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490768951 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:43393874 (GRCh38)
                          10:43889322 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:43393873:C:T
                          Gene:
                          HNRNPF (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1490439771 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            10:43397661 (GRCh38)
                            10:43893109 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:43397660:T:C
                            Gene:
                            HNRNPF (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000224/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1490420822 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,G [Show Flanks]
                              Chromosome:
                              10:43410833 (GRCh38)
                              10:43906281 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:43410832:T:A,NC_000010.11:43410832:T:G
                              Gene:
                              HNRNPF (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490387066 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                10:43388808 (GRCh38)
                                10:43884256 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:43388807:A:G
                                Gene:
                                HNRNPF (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1490280357 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  10:43398344 (GRCh38)
                                  10:43893792 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:43398343:G:
                                  Gene:
                                  HNRNPF (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.00857/912 (GnomAD)
                                  -=0.010462/67 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1490091485 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    G>- [Show Flanks]
                                    Chromosome:
                                    10:43410002 (GRCh38)
                                    10:43905450 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:43410001:G:
                                    Gene:
                                    HNRNPF (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.0006/10 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1489940219 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      10:43392741 (GRCh38)
                                      10:43888189 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:43392740:A:T
                                      Gene:
                                      HNRNPF (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1489335855 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:43406969 (GRCh38)
                                        10:43902417 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:43406968:T:C
                                        Gene:
                                        HNRNPF (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000035/1 (TOMMO)
                                        HGVS:

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