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Links from Gene

Items: 1 to 20 of 6324

1.

rs1491577181 has merged into rs35094143 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAA>-,A,AA,AAA,AAAA,AAAAAA [Show Flanks]
    Chromosome:
    11:71798815 (GRCh38)
    11:71509861 (GRCh37)
    Canonical SPDI:
    NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
    Gene:
    FAM86C1P (Varview), ALG1L9P (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    -=0.475/19 (GENOME_DK)
    HGVS:
    2.

    rs1491551591 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      11:71798885 (GRCh38)
      11:71509931 (GRCh37)
      Canonical SPDI:
      NC_000011.10:71798882:CTCT:CT
      Gene:
      FAM86C1P (Varview), ALG1L9P (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTCT=0.005759/94 (ALFA)
      -=0.007123/118 (TOMMO)
      -=0.008063/878 (GnomAD)
      -=0.008588/55 (1000Genomes)
      -=0.016722/10 (NorthernSweden)
      HGVS:
      3.

      rs1491462771 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
        Chromosome:
        11:71798883 (GRCh38)
        11:71509930 (GRCh37)
        Canonical SPDI:
        NC_000011.10:71798883:T:TGT,NC_000011.10:71798883:T:TGTGT,NC_000011.10:71798883:T:TGTGTGT,NC_000011.10:71798883:T:TGTGTGTGT,NC_000011.10:71798883:T:TGTGTGTGTGT,NC_000011.10:71798883:T:TGTGTGTGTGTGT
        Gene:
        FAM86C1P (Varview), ALG1L9P (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGT=0./0 (ALFA)
        HGVS:
        4.

        rs1491397659 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->TC [Show Flanks]
          Chromosome:
          11:71798804 (GRCh38)
          11:71509851 (GRCh37)
          Canonical SPDI:
          NC_000011.10:71798804::TC
          Gene:
          FAM86C1P (Varview), ALG1L9P (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TC=0./0 (ALFA)
          TC=0.000004/1 (TOPMED)
          TC=0.000035/1 (GnomAD)
          HGVS:
          5.

          rs1491279511 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CAA [Show Flanks]
            Chromosome:
            11:71797326 (GRCh38)
            11:71508373 (GRCh37)
            Canonical SPDI:
            NC_000011.10:71797326:CAA:CAACAA
            Gene:
            FAM86C1P (Varview), ALG1L9P (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            CAACAA=0./0 (ALFA)
            CAA=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491178443 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GC>- [Show Flanks]
              Chromosome:
              11:71797326 (GRCh38)
              11:71508372 (GRCh37)
              Canonical SPDI:
              NC_000011.10:71797325:GC:
              Gene:
              FAM86C1P (Varview), ALG1L9P (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00514/61 (ALFA)
              -=0.00096/51 (GnomAD)
              HGVS:
              7.

              rs1490836458 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                11:71804359 (GRCh38)
                11:71515405 (GRCh37)
                Canonical SPDI:
                NC_000011.10:71804358:G:T
                Gene:
                ALG1L9P (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1490782560 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  11:71795455 (GRCh38)
                  11:71506501 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:71795454:G:C
                  Gene:
                  FAM86C1P (Varview), ALG1L9P (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.00011/3 (TOMMO)
                  HGVS:
                  9.

                  rs1490662459 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    11:71810961 (GRCh38)
                    11:71522007 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:71810960:A:T
                    Gene:
                    ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000015/2 (GnomAD)
                    A=0.5/2 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs1490581600 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:71799912 (GRCh38)
                      11:71510958 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:71799911:A:G
                      Gene:
                      FAM86C1P (Varview), ALG1L9P (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490501735 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:71805570 (GRCh38)
                        11:71516616 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:71805569:C:T
                        Gene:
                        ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000142/2 (ALFA)
                        T=0.000034/9 (TOPMED)
                        T=0.00005/7 (GnomAD)
                        HGVS:
                        12.

                        rs1490372882 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:71804725 (GRCh38)
                          11:71515771 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:71804724:G:A
                          Gene:
                          ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490354443 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:71815718 (GRCh38)
                            11:71526764 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:71815717:G:A
                            Gene:
                            ALG1L9P (Varview), ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490319304 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:71812318 (GRCh38)
                              11:71523364 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:71812317:C:T
                              Gene:
                              ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000019/5 (TOPMED)
                              T=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1490306619 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C,T [Show Flanks]
                                Chromosome:
                                11:71801116 (GRCh38)
                                11:71512162 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:71801115:G:A,NC_000011.10:71801115:G:C,NC_000011.10:71801115:G:T
                                Gene:
                                ALG1L9P (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490243971 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:71795191 (GRCh38)
                                  11:71506237 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:71795190:G:T
                                  Gene:
                                  FAM86C1P (Varview), ALG1L9P (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_downstream_transcript_variant,splice_donor_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000043/6 (GnomAD)
                                  T=0.000045/12 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490044822 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:71805369 (GRCh38)
                                    11:71516415 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:71805368:G:A
                                    Gene:
                                    ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490029705 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      11:71806282 (GRCh38)
                                      11:71517328 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:71806281:G:
                                      Gene:
                                      ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489993645 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        11:71804756 (GRCh38)
                                        11:71515802 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:71804755:G:A,NC_000011.10:71804755:G:C
                                        Gene:
                                        ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1489747509 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CTGT>- [Show Flanks]
                                          Chromosome:
                                          11:71798885 (GRCh38)
                                          11:71509931 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:71798883:TCTGT:T
                                          Gene:
                                          FAM86C1P (Varview), ALG1L9P (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.01391/165 (ALFA)
                                          -=0.010607/175 (TOMMO)
                                          -=0.015101/9 (NorthernSweden)
                                          -=0.016548/1796 (GnomAD)
                                          HGVS:

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