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1.

rs1491038702 has merged into rs35429362 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
    Chromosome:
    6:32851937 (GRCh38)
    6:32819714 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:32851924:GAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
    Gene:
    TAP1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GAGAGAGAGAGAGA=0./0 (ALFA)
    GA=0.20707/1037 (1000Genomes)
    HGVS:
    NC_000006.12:g.32851925GA[6], NC_000006.12:g.32851925GA[7], NC_000006.12:g.32851925GA[8], NC_000006.12:g.32851925GA[9], NC_000006.12:g.32851925GA[11], NC_000006.12:g.32851925GA[12], NC_000006.12:g.32851925GA[13], NC_000006.12:g.32851925GA[14], NC_000006.12:g.32851925GA[15], NC_000006.12:g.32851925GA[16], NC_000006.12:g.32851925GA[17], NC_000006.12:g.32851925GA[18], NC_000006.11:g.32819702GA[6], NC_000006.11:g.32819702GA[7], NC_000006.11:g.32819702GA[8], NC_000006.11:g.32819702GA[9], NC_000006.11:g.32819702GA[11], NC_000006.11:g.32819702GA[12], NC_000006.11:g.32819702GA[13], NC_000006.11:g.32819702GA[14], NC_000006.11:g.32819702GA[15], NC_000006.11:g.32819702GA[16], NC_000006.11:g.32819702GA[17], NC_000006.11:g.32819702GA[18], NG_011759.1:g.7028TC[6], NG_011759.1:g.7028TC[7], NG_011759.1:g.7028TC[8], NG_011759.1:g.7028TC[9], NG_011759.1:g.7028TC[11], NG_011759.1:g.7028TC[12], NG_011759.1:g.7028TC[13], NG_011759.1:g.7028TC[14], NG_011759.1:g.7028TC[15], NG_011759.1:g.7028TC[16], NG_011759.1:g.7028TC[17], NG_011759.1:g.7028TC[18], NT_113891.3:g.4264124GA[6], NT_113891.3:g.4264124GA[7], NT_113891.3:g.4264124GA[8], NT_113891.3:g.4264124GA[9], NT_113891.3:g.4264124GA[11], NT_113891.3:g.4264124GA[12], NT_113891.3:g.4264124GA[13], NT_113891.3:g.4264124GA[14], NT_113891.3:g.4264124GA[15], NT_113891.3:g.4264124GA[16], NT_113891.3:g.4264124GA[17], NT_113891.3:g.4264124GA[18], NT_113891.2:g.4264230GA[6], NT_113891.2:g.4264230GA[7], NT_113891.2:g.4264230GA[8], NT_113891.2:g.4264230GA[9], NT_113891.2:g.4264230GA[11], NT_113891.2:g.4264230GA[12], NT_113891.2:g.4264230GA[13], NT_113891.2:g.4264230GA[14], NT_113891.2:g.4264230GA[15], NT_113891.2:g.4264230GA[16], NT_113891.2:g.4264230GA[17], NT_113891.2:g.4264230GA[18], NT_167248.2:g.4046213GA[6], NT_167248.2:g.4046213GA[7], NT_167248.2:g.4046213GA[8], NT_167248.2:g.4046213GA[9], NT_167248.2:g.4046213GA[11], NT_167248.2:g.4046213GA[12], NT_167248.2:g.4046213GA[13], NT_167248.2:g.4046213GA[14], NT_167248.2:g.4046213GA[15], NT_167248.2:g.4046213GA[16], NT_167248.2:g.4046213GA[17], NT_167248.2:g.4046213GA[18], NT_167248.1:g.4051809GA[6], NT_167248.1:g.4051809GA[7], NT_167248.1:g.4051809GA[8], NT_167248.1:g.4051809GA[9], NT_167248.1:g.4051809GA[11], NT_167248.1:g.4051809GA[12], NT_167248.1:g.4051809GA[13], NT_167248.1:g.4051809GA[14], NT_167248.1:g.4051809GA[15], NT_167248.1:g.4051809GA[16], NT_167248.1:g.4051809GA[17], NT_167248.1:g.4051809GA[18], NT_167246.2:g.4271278GA[6], NT_167246.2:g.4271278GA[7], NT_167246.2:g.4271278GA[8], NT_167246.2:g.4271278GA[9], NT_167246.2:g.4271278GA[11], NT_167246.2:g.4271278GA[12], NT_167246.2:g.4271278GA[13], NT_167246.2:g.4271278GA[14], NT_167246.2:g.4271278GA[15], NT_167246.2:g.4271278GA[16], NT_167246.2:g.4271278GA[17], NT_167246.2:g.4271278GA[18], NT_167246.1:g.4276898GA[6], NT_167246.1:g.4276898GA[7], NT_167246.1:g.4276898GA[8], NT_167246.1:g.4276898GA[9], NT_167246.1:g.4276898GA[11], NT_167246.1:g.4276898GA[12], NT_167246.1:g.4276898GA[13], NT_167246.1:g.4276898GA[14], NT_167246.1:g.4276898GA[15], NT_167246.1:g.4276898GA[16], NT_167246.1:g.4276898GA[17], NT_167246.1:g.4276898GA[18], NT_167249.2:g.4251175GA[7], NT_167249.2:g.4251175GA[8], NT_167249.2:g.4251175GA[9], NT_167249.2:g.4251175GA[10], NT_167249.2:g.4251175GA[12], NT_167249.2:g.4251175GA[13], NT_167249.2:g.4251175GA[14], NT_167249.2:g.4251175GA[15], NT_167249.2:g.4251175GA[16], NT_167249.2:g.4251175GA[17], NT_167249.2:g.4251175GA[18], NT_167249.2:g.4251175GA[19], NT_167249.1:g.4250473GA[7], NT_167249.1:g.4250473GA[8], NT_167249.1:g.4250473GA[9], NT_167249.1:g.4250473GA[10], NT_167249.1:g.4250473GA[12], NT_167249.1:g.4250473GA[13], NT_167249.1:g.4250473GA[14], NT_167249.1:g.4250473GA[15], NT_167249.1:g.4250473GA[16], NT_167249.1:g.4250473GA[17], NT_167249.1:g.4250473GA[18], NT_167249.1:g.4250473GA[19], NT_167245.2:g.4095493GA[7], NT_167245.2:g.4095493GA[8], NT_167245.2:g.4095493GA[9], NT_167245.2:g.4095493GA[10], NT_167245.2:g.4095493GA[12], NT_167245.2:g.4095493GA[13], NT_167245.2:g.4095493GA[14], NT_167245.2:g.4095493GA[15], NT_167245.2:g.4095493GA[16], NT_167245.2:g.4095493GA[17], NT_167245.2:g.4095493GA[18], NT_167245.2:g.4095493GA[19], NT_167245.1:g.4101078GA[7], NT_167245.1:g.4101078GA[8], NT_167245.1:g.4101078GA[9], NT_167245.1:g.4101078GA[10], NT_167245.1:g.4101078GA[12], NT_167245.1:g.4101078GA[13], NT_167245.1:g.4101078GA[14], NT_167245.1:g.4101078GA[15], NT_167245.1:g.4101078GA[16], NT_167245.1:g.4101078GA[17], NT_167245.1:g.4101078GA[18], NT_167245.1:g.4101078GA[19], NT_167244.2:g.4156788GA[7], NT_167244.2:g.4156788GA[8], NT_167244.2:g.4156788GA[9], NT_167244.2:g.4156788GA[10], NT_167244.2:g.4156788GA[12], NT_167244.2:g.4156788GA[13], NT_167244.2:g.4156788GA[14], NT_167244.2:g.4156788GA[15], NT_167244.2:g.4156788GA[16], NT_167244.2:g.4156788GA[17], NT_167244.2:g.4156788GA[18], NT_167244.2:g.4156788GA[19], NT_167244.1:g.4106704GA[7], NT_167244.1:g.4106704GA[8], NT_167244.1:g.4106704GA[9], NT_167244.1:g.4106704GA[10], NT_167244.1:g.4106704GA[12], NT_167244.1:g.4106704GA[13], NT_167244.1:g.4106704GA[14], NT_167244.1:g.4106704GA[15], NT_167244.1:g.4106704GA[16], NT_167244.1:g.4106704GA[17], NT_167244.1:g.4106704GA[18], NT_167244.1:g.4106704GA[19], NT_167247.2:g.4150992GA[7], NT_167247.2:g.4150992GA[8], NT_167247.2:g.4150992GA[9], NT_167247.2:g.4150992GA[10], NT_167247.2:g.4150992GA[12], NT_167247.2:g.4150992GA[13], NT_167247.2:g.4150992GA[14], NT_167247.2:g.4150992GA[15], NT_167247.2:g.4150992GA[16], NT_167247.2:g.4150992GA[17], NT_167247.2:g.4150992GA[18], NT_167247.2:g.4150992GA[19], NT_167247.1:g.4156577GA[7], NT_167247.1:g.4156577GA[8], NT_167247.1:g.4156577GA[9], NT_167247.1:g.4156577GA[10], NT_167247.1:g.4156577GA[12], NT_167247.1:g.4156577GA[13], NT_167247.1:g.4156577GA[14], NT_167247.1:g.4156577GA[15], NT_167247.1:g.4156577GA[16], NT_167247.1:g.4156577GA[17], NT_167247.1:g.4156577GA[18], NT_167247.1:g.4156577GA[19]
    4.
    7.
    9.

    rs1488575191 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      6:32844811 (GRCh38)
      6:32812588 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32844810:T:C
      Gene:
      PSMB8 (Varview), TAP1 (Varview), PSMB8-AS1 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      11.

      rs1487727052 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        6:32855179 (GRCh38)
        6:32822956 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32855178:A:G
        Gene:
        PSMB9 (Varview), TAP1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        14.

        rs1486814853 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          6:32854310 (GRCh38)
          6:32822087 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32854309:G:T
          Gene:
          PSMB9 (Varview), TAP1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000026/7 (TOPMED)
          T=0.000119/2 (TOMMO)
          T=0.000685/2 (KOREAN)
          G=0.5/1 (SGDP_PRJ)
          HGVS:
          15.

          rs1486793071 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:32844821 (GRCh38)
            6:32812598 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32844820:A:G
            Gene:
            PSMB8 (Varview), TAP1 (Varview), PSMB8-AS1 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            16.

            rs1486619796 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:32846891 (GRCh38)
              6:32814668 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32846890:G:A
              Gene:
              TAP1 (Varview), PSMB8-AS1 (Varview)
              Functional Consequence:
              downstream_transcript_variant,intron_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              17.

              rs1486523729 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:32846042 (GRCh38)
                6:32813819 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32846041:T:C
                Gene:
                PSMB8 (Varview), TAP1 (Varview), PSMB8-AS1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                18.

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