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1.

Error occurred: cannot get document summary

2.

rs1491577074 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,AAAAAAAAAAAAAAAAAGAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAA,AAAAAAAAAAAAGAAAAAAAAAAA,AAAAAAAAAAAGAAAAAAAAAAA,AAAAAAAAAAGAAAAAAAAAAA,AAAAAAAAGAAAAAAAAAAA,AAAAAAAGAAAAAAAAAAA,AAAAAAGAAAAAAAAAAA,AAAAGAAAAAAAAAAA,AAAGAAAAAAAAAAA [Show Flanks]
    Chromosome:
    12:114708196 (GRCh38)
    12:115146002 (GRCh37)
    Canonical SPDI:
    NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAAGAAAAAAAAAAA,NC_000012.12:114708196:AAAAAAAAAAA:AAAAAAAAAAAAAAGAAAAAAAAAAA
    Gene:
    LOC105370000 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    HGVS:
    NC_000012.12:g.114708197_114708207A[37]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[29]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[28]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[27]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[23]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[22]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[21]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[19]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[18]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[17]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[15]GAAAAAAAAAAA[1], NC_000012.12:g.114708197_114708207A[14]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[37]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[29]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[28]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[27]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[23]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[22]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[21]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[19]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[18]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[17]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[15]GAAAAAAAAAAA[1], NC_000012.11:g.115146002_115146012A[14]GAAAAAAAAAAA[1]
    3.

    rs1491574676 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A,AAAA [Show Flanks]
      Chromosome:
      12:114715784 (GRCh38)
      12:115153590 (GRCh37)
      Canonical SPDI:
      NC_000012.12:114715784:A:AA,NC_000012.12:114715784:A:AAAAA
      Gene:
      LOC105370000 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      AAAAA=0./0 (ALFA)
      HGVS:
      4.

      rs1491564687 has merged into rs775438524 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,TTTT [Show Flanks]
        Chromosome:
        12:114722381 (GRCh38)
        12:115160186 (GRCh37)
        Canonical SPDI:
        NC_000012.12:114722379:TTT:T,NC_000012.12:114722379:TTT:TTTTT
        Gene:
        LOC105370000 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        -=0.000572/77 (GnomAD)
        -=0.114887/426 (TWINSUK)
        -=0.120394/464 (ALSPAC)
        HGVS:
        5.

        rs1491504745 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTGTGTGTGTG [Show Flanks]
          Chromosome:
          12:114689993 (GRCh38)
          12:115127799 (GRCh37)
          Canonical SPDI:
          NC_000012.12:114689993:GTGTGTGTGTG:GTGTGTGTGTGGTGTGTGTGTG
          Gene:
          LOC105370000 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTGTGTGTGTGGTGTGTGTGTG=0./0 (ALFA)
          GTGTGTGTGTG=0.000008/2 (TOPMED)
          GTGTGTGTGTG=0.000742/3 (GnomAD)
          HGVS:
          6.

          rs1491439925 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->GAAAAAAAAAAAAA
            Chromosome:
            no mapping
            Canonical SPDI:
            7.

            rs1491403389 has merged into rs558539874 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              12:114727118 (GRCh38)
              12:115164923 (GRCh37)
              Canonical SPDI:
              NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:114727107:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              LOC105370000 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTT=0./0 (ALFA)
              TTTTTTTTTTTTTTTTT=0./0 (GENOME_DK)
              TTTTTTTTTTTTTTTTT=0.3744/1875 (1000Genomes)
              HGVS:
              NC_000012.12:g.114727118_114727137del, NC_000012.12:g.114727119_114727137del, NC_000012.12:g.114727120_114727137del, NC_000012.12:g.114727121_114727137del, NC_000012.12:g.114727122_114727137del, NC_000012.12:g.114727123_114727137del, NC_000012.12:g.114727124_114727137del, NC_000012.12:g.114727125_114727137del, NC_000012.12:g.114727126_114727137del, NC_000012.12:g.114727127_114727137del, NC_000012.12:g.114727128_114727137del, NC_000012.12:g.114727129_114727137del, NC_000012.12:g.114727130_114727137del, NC_000012.12:g.114727131_114727137del, NC_000012.12:g.114727132_114727137del, NC_000012.12:g.114727133_114727137del, NC_000012.12:g.114727134_114727137del, NC_000012.12:g.114727135_114727137del, NC_000012.12:g.114727136_114727137del, NC_000012.12:g.114727137del, NC_000012.12:g.114727137dup, NC_000012.12:g.114727136_114727137dup, NC_000012.12:g.114727135_114727137dup, NC_000012.12:g.114727134_114727137dup, NC_000012.12:g.114727133_114727137dup, NC_000012.12:g.114727132_114727137dup, NC_000012.12:g.114727131_114727137dup, NC_000012.12:g.114727130_114727137dup, NC_000012.12:g.114727129_114727137dup, NC_000012.12:g.114727128_114727137dup, NC_000012.12:g.114727127_114727137dup, NC_000012.12:g.114727126_114727137dup, NC_000012.12:g.114727125_114727137dup, NC_000012.12:g.114727124_114727137dup, NC_000012.12:g.114727123_114727137dup, NC_000012.12:g.114727122_114727137dup, NC_000012.12:g.114727121_114727137dup, NC_000012.11:g.115164923_115164942del, NC_000012.11:g.115164924_115164942del, NC_000012.11:g.115164925_115164942del, NC_000012.11:g.115164926_115164942del, NC_000012.11:g.115164927_115164942del, NC_000012.11:g.115164928_115164942del, NC_000012.11:g.115164929_115164942del, NC_000012.11:g.115164930_115164942del, NC_000012.11:g.115164931_115164942del, NC_000012.11:g.115164932_115164942del, NC_000012.11:g.115164933_115164942del, NC_000012.11:g.115164934_115164942del, NC_000012.11:g.115164935_115164942del, NC_000012.11:g.115164936_115164942del, NC_000012.11:g.115164937_115164942del, NC_000012.11:g.115164938_115164942del, NC_000012.11:g.115164939_115164942del, NC_000012.11:g.115164940_115164942del, NC_000012.11:g.115164941_115164942del, NC_000012.11:g.115164942del, NC_000012.11:g.115164942dup, NC_000012.11:g.115164941_115164942dup, NC_000012.11:g.115164940_115164942dup, NC_000012.11:g.115164939_115164942dup, NC_000012.11:g.115164938_115164942dup, NC_000012.11:g.115164937_115164942dup, NC_000012.11:g.115164936_115164942dup, NC_000012.11:g.115164935_115164942dup, NC_000012.11:g.115164934_115164942dup, NC_000012.11:g.115164933_115164942dup, NC_000012.11:g.115164932_115164942dup, NC_000012.11:g.115164931_115164942dup, NC_000012.11:g.115164930_115164942dup, NC_000012.11:g.115164929_115164942dup, NC_000012.11:g.115164928_115164942dup, NC_000012.11:g.115164927_115164942dup, NC_000012.11:g.115164926_115164942dup
              8.

              rs1491389735 has merged into rs3070781 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                Chromosome:
                12:114690008 (GRCh38)
                12:115127813 (GRCh37)
                Canonical SPDI:
                NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:114689992:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                Gene:
                LOC105370000 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGTGTGTGTGTGTGT=0./0 (ALFA)
                HGVS:
                NC_000012.12:g.114689994GT[7], NC_000012.12:g.114689994GT[8], NC_000012.12:g.114689994GT[9], NC_000012.12:g.114689994GT[10], NC_000012.12:g.114689994GT[11], NC_000012.12:g.114689994GT[13], NC_000012.12:g.114689994GT[14], NC_000012.12:g.114689994GT[15], NC_000012.12:g.114689994GT[16], NC_000012.12:g.114689994GT[17], NC_000012.12:g.114689994GT[18], NC_000012.12:g.114689994GT[19], NC_000012.12:g.114689994GT[20], NC_000012.12:g.114689994GT[21], NC_000012.12:g.114689994GT[22], NC_000012.12:g.114689994GT[23], NC_000012.12:g.114689994GT[24], NC_000012.12:g.114689994GT[25], NC_000012.12:g.114689994GT[26], NC_000012.11:g.115127799GT[7], NC_000012.11:g.115127799GT[8], NC_000012.11:g.115127799GT[9], NC_000012.11:g.115127799GT[10], NC_000012.11:g.115127799GT[11], NC_000012.11:g.115127799GT[13], NC_000012.11:g.115127799GT[14], NC_000012.11:g.115127799GT[15], NC_000012.11:g.115127799GT[16], NC_000012.11:g.115127799GT[17], NC_000012.11:g.115127799GT[18], NC_000012.11:g.115127799GT[19], NC_000012.11:g.115127799GT[20], NC_000012.11:g.115127799GT[21], NC_000012.11:g.115127799GT[22], NC_000012.11:g.115127799GT[23], NC_000012.11:g.115127799GT[24], NC_000012.11:g.115127799GT[25], NC_000012.11:g.115127799GT[26], XR_002957428.1:n.555GT[7], XR_002957428.1:n.555GT[8], XR_002957428.1:n.555GT[9], XR_002957428.1:n.555GT[10], XR_002957428.1:n.555GT[11], XR_002957428.1:n.555GT[13], XR_002957428.1:n.555GT[14], XR_002957428.1:n.555GT[15], XR_002957428.1:n.555GT[16], XR_002957428.1:n.555GT[17], XR_002957428.1:n.555GT[18], XR_002957428.1:n.555GT[19], XR_002957428.1:n.555GT[20], XR_002957428.1:n.555GT[21], XR_002957428.1:n.555GT[22], XR_002957428.1:n.555GT[23], XR_002957428.1:n.555GT[24], XR_002957428.1:n.555GT[25], XR_002957428.1:n.555GT[26]
                9.

                rs1491388458 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>- [Show Flanks]
                  Chromosome:
                  12:114733152 (GRCh38)
                  12:115170957 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:114733150:TTT:T
                  Gene:
                  LOC105370000 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.00008/1 (ALFA)
                  HGVS:
                  10.

                  Error occurred: cannot get document summary

                  11.

                  rs1491303399 has merged into rs60193454 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    12:114703641 (GRCh38)
                    12:115141446 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:114703628:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    LOC105370000 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAAAA=0./0 (ALFA)
                    -=0./0 (GENOME_DK)
                    AAAA=0.0729/365 (1000Genomes)
                    HGVS:
                    NC_000012.12:g.114703641_114703648del, NC_000012.12:g.114703642_114703648del, NC_000012.12:g.114703643_114703648del, NC_000012.12:g.114703644_114703648del, NC_000012.12:g.114703645_114703648del, NC_000012.12:g.114703646_114703648del, NC_000012.12:g.114703647_114703648del, NC_000012.12:g.114703648del, NC_000012.12:g.114703648dup, NC_000012.12:g.114703647_114703648dup, NC_000012.12:g.114703646_114703648dup, NC_000012.12:g.114703637_114703648dup, NC_000012.11:g.115141446_115141453del, NC_000012.11:g.115141447_115141453del, NC_000012.11:g.115141448_115141453del, NC_000012.11:g.115141449_115141453del, NC_000012.11:g.115141450_115141453del, NC_000012.11:g.115141451_115141453del, NC_000012.11:g.115141452_115141453del, NC_000012.11:g.115141453del, NC_000012.11:g.115141453dup, NC_000012.11:g.115141452_115141453dup, NC_000012.11:g.115141451_115141453dup, NC_000012.11:g.115141442_115141453dup
                    12.

                    rs1491263684 has merged into rs33954499 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      12:114730383 (GRCh38)
                      12:115168188 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:114730377:TTTTTTTTT:TTTTT,NC_000012.12:114730377:TTTTTTTTT:TTTTTTT,NC_000012.12:114730377:TTTTTTTTT:TTTTTTTT,NC_000012.12:114730377:TTTTTTTTT:TTTTTTTTTT,NC_000012.12:114730377:TTTTTTTTT:TTTTTTTTTTT,NC_000012.12:114730377:TTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:114730377:TTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:114730377:TTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:114730377:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
                      Gene:
                      LOC105370000 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTT=0./0 (ALFA)
                      -=0.5/4 (KOREAN)
                      HGVS:
                      13.

                      rs1491259928 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        ->TATATGTAAATATATATATT
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        14.

                        rs1491234740 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AA>- [Show Flanks]
                          Chromosome:
                          12:114733372 (GRCh38)
                          12:115171177 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:114733371:AA:
                          Gene:
                          LOC105369999 (Varview), LOC105370000 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,intron_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.00005/5 (GnomAD)
                          HGVS:
                          15.

                          rs1491226774 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TA>- [Show Flanks]
                            Chromosome:
                            12:114703628 (GRCh38)
                            12:115141433 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:114703627:TA:
                            Gene:
                            LOC105370000 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.00027/4 (TOMMO)
                            HGVS:
                            16.

                            rs1491215070 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->A,AAA [Show Flanks]
                              Chromosome:
                              12:114733151 (GRCh38)
                              12:115170957 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:114733151::A,NC_000012.12:114733151::AAA
                              Gene:
                              LOC105370000 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.27619/4625 (TOMMO)
                              HGVS:
                              17.

                              rs1491211042 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                12:114733155 (GRCh38)
                                12:115170960 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:114733153:ACA:A
                                Gene:
                                LOC105370000 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                -=0.000027/3 (GnomAD)
                                -=0.000418/7 (TOMMO)
                                HGVS:
                                18.

                                rs1491158908 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CA>- [Show Flanks]
                                  Chromosome:
                                  12:114715786 (GRCh38)
                                  12:115153591 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:114715783:CACA:CA
                                  Gene:
                                  LOC105370000 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  CACA=0./0 (ALFA)
                                  HGVS:
                                  19.

                                  rs1491146636 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    12:114708163 (GRCh38)
                                    12:115145968 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:114708162:CA:
                                    Gene:
                                    LOC105370000 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    20.

                                    rs1491105167 has merged into rs58578648 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                                      Chromosome:
                                      12:114719519 (GRCh38)
                                      12:115157324 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:114719509:AAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:114719509:AAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:114719509:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:114719509:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:114719509:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:114719509:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
                                      Gene:
                                      LOC105370000 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAA=0./0 (ALFA)
                                      A=0.20927/1048 (1000Genomes)
                                      HGVS:

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