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Links from Gene

Items: 1 to 20 of 1752

1.

rs1491546137 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    19:18176142 (GRCh38)
    19:18286953 (GRCh37)
    Canonical SPDI:
    NC_000019.10:18176142::A
    Gene:
    IFI30 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    A=0.00004/1 (GnomAD)
    HGVS:
    2.

    rs1490538717 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      19:18178021 (GRCh38)
      19:18288831 (GRCh37)
      Canonical SPDI:
      NC_000019.10:18178020:A:T
      Gene:
      IFI30 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490280443 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        19:18175894 (GRCh38)
        19:18286704 (GRCh37)
        Canonical SPDI:
        NC_000019.10:18175893:A:G
        Gene:
        IFI30 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000106/2 (TOMMO)
        G=0.007187/21 (KOREAN)
        HGVS:
        4.

        rs1489488900 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          19:18173712 (GRCh38)
          19:18284523 (GRCh37)
          Canonical SPDI:
          NC_000019.10:18173712:G:GG
          Gene:
          IFI30 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GG=0./0 (ALFA)
          G=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1489282028 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            19:18176513 (GRCh38)
            19:18287323 (GRCh37)
            Canonical SPDI:
            NC_000019.10:18176512:T:A
            Gene:
            IFI30 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1489132780 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:18174820 (GRCh38)
              19:18285630 (GRCh37)
              Canonical SPDI:
              NC_000019.10:18174819:C:T
              Gene:
              IFI30 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000019/5 (TOPMED)
              T=0.000022/3 (GnomAD)
              HGVS:
              7.

              rs1489131103 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                19:18173129 (GRCh38)
                19:18283939 (GRCh37)
                Canonical SPDI:
                NC_000019.10:18173128:T:A,NC_000019.10:18173128:T:C
                Gene:
                IFI30 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1488807338 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  19:18172642 (GRCh38)
                  19:18283452 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:18172641:G:A,NC_000019.10:18172641:G:C
                  Gene:
                  IFI30 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1488413670 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:18173439 (GRCh38)
                    19:18284249 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:18173438:G:A
                    Gene:
                    IFI30 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1487183590 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:18172572 (GRCh38)
                      19:18283382 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:18172571:G:A
                      Gene:
                      IFI30 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1486638150 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:18175730 (GRCh38)
                        19:18286540 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:18175729:G:A
                        Gene:
                        IFI30 (Varview)
                        Functional Consequence:
                        intron_variant
                        HGVS:
                        12.

                        rs1486602020 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          19:18177701 (GRCh38)
                          19:18288511 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:18177700:C:A,NC_000019.10:18177700:C:T
                          Gene:
                          IFI30 (Varview)
                          Functional Consequence:
                          intron_variant
                          HGVS:
                          13.

                          rs1486501507 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:18175417 (GRCh38)
                            19:18286227 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:18175416:G:A
                            Gene:
                            IFI30 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1485974052 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:18178378 (GRCh38)
                              19:18289188 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:18178377:G:A
                              Gene:
                              IFI30 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1485801578 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                19:18172555 (GRCh38)
                                19:18283365 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:18172554:C:G
                                Gene:
                                IFI30 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000036/5 (GnomAD)
                                HGVS:
                                16.

                                rs1485758591 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  19:18174944 (GRCh38)
                                  19:18285754 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:18174943:T:A
                                  Gene:
                                  IFI30 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485595157 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,T [Show Flanks]
                                    Chromosome:
                                    19:18175536 (GRCh38)
                                    19:18286346 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:18175535:A:C,NC_000019.10:18175535:A:T
                                    Gene:
                                    IFI30 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1485592289 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:18176129 (GRCh38)
                                      19:18286939 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:18176128:C:T
                                      Gene:
                                      IFI30 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      HGVS:
                                      19.

                                      rs1485525549 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        19:18176425 (GRCh38)
                                        19:18287235 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:18176424:G:C
                                        Gene:
                                        IFI30 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000014/2 (GnomAD)
                                        C=0.000068/18 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484968656 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:18177950 (GRCh38)
                                          19:18288760 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:18177949:G:A
                                          Gene:
                                          IFI30 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          HGVS:

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