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Links from Gene

Items: 1 to 20 of 1000

1.

rs1490533601 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:154017459 (GRCh38)
    X:153282910 (GRCh37)
    Canonical SPDI:
    NC_000023.11:154017458:G:A
    Gene:
    IRAK1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490499638 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      X:154018492 (GRCh38)
      X:153283943 (GRCh37)
      Canonical SPDI:
      NC_000023.11:154018491:G:A,NC_000023.11:154018491:G:C
      Gene:
      IRAK1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      C=0.00001/1 (GnomAD)
      HGVS:
      3.

      rs1489630780 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        X:154016891 (GRCh38)
        X:153282342 (GRCh37)
        Canonical SPDI:
        NC_000023.11:154016890:C:A
        Gene:
        IRAK1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000019/2 (GnomAD)
        A=0.00003/8 (TOPMED)
        HGVS:
        4.

        rs1489445993 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:154021550 (GRCh38)
          X:153287001 (GRCh37)
          Canonical SPDI:
          NC_000023.11:154021549:A:G
          Gene:
          IRAK1 (Varview), MECP2 (Varview), MIR718 (Varview)
          Functional Consequence:
          2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000015/4 (TOPMED)
          G=0.000029/3 (GnomAD)
          HGVS:
          6.

          rs1489035981 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:154012179 (GRCh38)
            X:153277630 (GRCh37)
            Canonical SPDI:
            NC_000023.11:154012178:G:A
            Gene:
            IRAK1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000019/2 (GnomAD)
            A=0.00009/1 (TOMMO)
            HGVS:
            7.

            rs1488908200 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:154014813 (GRCh38)
              X:153280264 (GRCh37)
              Canonical SPDI:
              NC_000023.11:154014812:A:G
              Gene:
              IRAK1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              G=0.000019/2 (GnomAD)
              HGVS:
              8.

              rs1488838203 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:154010289 (GRCh38)
                X:153275740 (GRCh37)
                Canonical SPDI:
                NC_000023.11:154010288:T:C
                Gene:
                IRAK1 (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.00001/1 (GnomAD)
                HGVS:
                9.

                rs1488719226 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:154021083 (GRCh38)
                  X:153286534 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:154021082:G:A
                  Gene:
                  IRAK1 (Varview), MECP2 (Varview), MIR718 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.00001/1 (GnomAD)
                  A=0.000057/15 (TOPMED)
                  HGVS:
                  10.

                  rs1488705832 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:154011652 (GRCh38)
                    X:153277103 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:154011651:C:T
                    Gene:
                    IRAK1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000015/4 (TOPMED)
                    HGVS:
                    11.

                    rs1488647269 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      X:154019928 (GRCh38)
                      X:153285379 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:154019927:C:G
                      Gene:
                      IRAK1 (Varview), MIR718 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.00001/1 (GnomAD)
                      HGVS:
                      12.

                      rs1487941919 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:154019877 (GRCh38)
                        X:153285328 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:154019876:C:T
                        Gene:
                        IRAK1 (Varview), MIR718 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        13.

                        rs1487883742 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:154011018 (GRCh38)
                          X:153276469 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:154011017:G:A
                          Gene:
                          IRAK1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.00001/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          14.

                          rs1487808602 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            X:154020953 (GRCh38)
                            X:153286404 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:154020952:G:C
                            Gene:
                            IRAK1 (Varview), MIR718 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000142/2 (ALFA)
                            C=0.000101/10 (GnomAD)
                            C=0.000113/30 (TOPMED)
                            HGVS:
                            15.

                            rs1487650502 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:154010567 (GRCh38)
                              X:153276018 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:154010566:G:A
                              Gene:
                              IRAK1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.00001/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              16.

                              rs1487610360 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->AGCC [Show Flanks]
                                Chromosome:
                                X:154019148 (GRCh38)
                                X:153284600 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:154019148::AGCC
                                Gene:
                                IRAK1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AGCC=0./0 (ALFA)
                                AGCC=0.000004/1 (TOPMED)
                                AGCC=0.00001/1 (GnomAD)
                                HGVS:
                                17.

                                rs1487477170 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:154020300 (GRCh38)
                                  X:153285751 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:154020299:C:T
                                  Gene:
                                  IRAK1 (Varview), MIR718 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.00001/1 (GnomAD)
                                  HGVS:
                                  19.

                                  rs1485791679 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:154013528 (GRCh38)
                                    X:153278979 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:154013527:C:T
                                    Gene:
                                    IRAK1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000019/2 (GnomAD)
                                    HGVS:
                                    20.

                                    rs1485701193 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      X:154014488 (GRCh38)
                                      X:153279939 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:154014487:T:C
                                      Gene:
                                      IRAK1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:

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