U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 8919

1.

rs1491579562 has merged into rs113165978 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA [Show Flanks]
    Chromosome:
    1:39542882 (GRCh38)
    1:40008554 (GRCh37)
    Canonical SPDI:
    NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000001.11:39542867:TATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA
    Gene:
    PPIEL (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATATATATATATA=0./0 (ALFA)
    TA=0.375/15 (GENOME_DK)
    HGVS:

    2.

    rs1491520216 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GG [Show Flanks]
      Chromosome:
      1:39539947 (GRCh38)
      1:40005620 (GRCh37)
      Canonical SPDI:
      NC_000001.11:39539947:G:GGG
      Gene:
      PPIEL (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      GGG=0.000084/1 (ALFA)
      GG=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1491329935 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GA [Show Flanks]
        Chromosome:
        1:39542868 (GRCh38)
        1:40008541 (GRCh37)
        Canonical SPDI:
        NC_000001.11:39542868:A:AGA
        Gene:
        PPIEL (Varview)
        Functional Consequence:
        intron_variant
        HGVS:

        4.

        rs1491318407 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AG>- [Show Flanks]
          Chromosome:
          1:39539949 (GRCh38)
          1:40005621 (GRCh37)
          Canonical SPDI:
          NC_000001.11:39539946:AGAG:AG
          Gene:
          PPIEL (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AGAG=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          HGVS:

          5.

          rs1491075248 has merged into rs35435329 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            1:39559801 (GRCh38)
            1:40025473 (GRCh37)
            Canonical SPDI:
            NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39559787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            PPIEL (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTT=0./0 (ALFA)
            -=0.0013/5 (ALSPAC)
            -=0.004/15 (TWINSUK)
            HGVS:
            NC_000001.11:g.39559801_39559806del, NC_000001.11:g.39559802_39559806del, NC_000001.11:g.39559803_39559806del, NC_000001.11:g.39559804_39559806del, NC_000001.11:g.39559805_39559806del, NC_000001.11:g.39559806del, NC_000001.11:g.39559806dup, NC_000001.11:g.39559805_39559806dup, NC_000001.11:g.39559804_39559806dup, NC_000001.11:g.39559803_39559806dup, NC_000001.11:g.39559802_39559806dup, NC_000001.11:g.39559801_39559806dup, NC_000001.11:g.39559800_39559806dup, NC_000001.11:g.39559799_39559806dup, NC_000001.11:g.39559794_39559806dup, NC_000001.10:g.40025473_40025478del, NC_000001.10:g.40025474_40025478del, NC_000001.10:g.40025475_40025478del, NC_000001.10:g.40025476_40025478del, NC_000001.10:g.40025477_40025478del, NC_000001.10:g.40025478del, NC_000001.10:g.40025478dup, NC_000001.10:g.40025477_40025478dup, NC_000001.10:g.40025476_40025478dup, NC_000001.10:g.40025475_40025478dup, NC_000001.10:g.40025474_40025478dup, NC_000001.10:g.40025473_40025478dup, NC_000001.10:g.40025472_40025478dup, NC_000001.10:g.40025471_40025478dup, NC_000001.10:g.40025466_40025478dup

            6.

            rs1491048076 has merged into rs60774595 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTTTTTTTT>-,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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              1:39558113 (GRCh38)
              1:40023785 (GRCh37)
              Canonical SPDI:
              NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:39558101:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              PPIEL (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000001.11:g.39558113_39558132del, NC_000001.11:g.39558115_39558132del, NC_000001.11:g.39558116_39558132del, NC_000001.11:g.39558117_39558132del, NC_000001.11:g.39558118_39558132del, NC_000001.11:g.39558119_39558132del, NC_000001.11:g.39558120_39558132del, NC_000001.11:g.39558121_39558132del, NC_000001.11:g.39558122_39558132del, NC_000001.11:g.39558123_39558132del, NC_000001.11:g.39558124_39558132del, NC_000001.11:g.39558125_39558132del, NC_000001.11:g.39558126_39558132del, NC_000001.11:g.39558127_39558132del, NC_000001.11:g.39558128_39558132del, NC_000001.11:g.39558129_39558132del, NC_000001.11:g.39558130_39558132del, NC_000001.11:g.39558131_39558132del, NC_000001.11:g.39558132del, NC_000001.11:g.39558132dup, NC_000001.11:g.39558131_39558132dup, NC_000001.11:g.39558130_39558132dup, NC_000001.11:g.39558129_39558132dup, NC_000001.11:g.39558128_39558132dup, NC_000001.11:g.39558127_39558132dup, NC_000001.11:g.39558126_39558132dup, NC_000001.11:g.39558125_39558132dup, NC_000001.11:g.39558124_39558132dup, NC_000001.11:g.39558123_39558132dup, NC_000001.11:g.39558122_39558132dup, NC_000001.11:g.39558121_39558132dup, NC_000001.11:g.39558120_39558132dup, NC_000001.11:g.39558119_39558132dup, NC_000001.11:g.39558118_39558132dup, NC_000001.11:g.39558117_39558132dup, NC_000001.11:g.39558116_39558132dup, NC_000001.11:g.39558115_39558132dup, NC_000001.11:g.39558114_39558132dup, NC_000001.11:g.39558113_39558132dup, NC_000001.11:g.39558112_39558132dup, NC_000001.11:g.39558111_39558132dup, NC_000001.11:g.39558110_39558132dup, NC_000001.11:g.39558109_39558132dup, NC_000001.11:g.39558108_39558132dup, NC_000001.11:g.39558107_39558132dup, NC_000001.11:g.39558106_39558132dup, NC_000001.11:g.39558105_39558132dup, NC_000001.11:g.39558104_39558132dup, NC_000001.11:g.39558103_39558132dup, NC_000001.11:g.39558102_39558132dup, NC_000001.11:g.39558132_39558133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.39558132_39558133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.39558132_39558133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.39558132_39558133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.39558132_39558133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.39558132_39558133insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.40023785_40023804del, NC_000001.10:g.40023787_40023804del, NC_000001.10:g.40023788_40023804del, NC_000001.10:g.40023789_40023804del, NC_000001.10:g.40023790_40023804del, NC_000001.10:g.40023791_40023804del, NC_000001.10:g.40023792_40023804del, NC_000001.10:g.40023793_40023804del, NC_000001.10:g.40023794_40023804del, NC_000001.10:g.40023795_40023804del, NC_000001.10:g.40023796_40023804del, NC_000001.10:g.40023797_40023804del, NC_000001.10:g.40023798_40023804del, NC_000001.10:g.40023799_40023804del, NC_000001.10:g.40023800_40023804del, NC_000001.10:g.40023801_40023804del, NC_000001.10:g.40023802_40023804del, NC_000001.10:g.40023803_40023804del, NC_000001.10:g.40023804del, NC_000001.10:g.40023804dup, NC_000001.10:g.40023803_40023804dup, NC_000001.10:g.40023802_40023804dup, NC_000001.10:g.40023801_40023804dup, NC_000001.10:g.40023800_40023804dup, NC_000001.10:g.40023799_40023804dup, NC_000001.10:g.40023798_40023804dup, NC_000001.10:g.40023797_40023804dup, NC_000001.10:g.40023796_40023804dup, NC_000001.10:g.40023795_40023804dup, NC_000001.10:g.40023794_40023804dup, NC_000001.10:g.40023793_40023804dup, NC_000001.10:g.40023792_40023804dup, NC_000001.10:g.40023791_40023804dup, NC_000001.10:g.40023790_40023804dup, NC_000001.10:g.40023789_40023804dup, NC_000001.10:g.40023788_40023804dup, NC_000001.10:g.40023787_40023804dup, NC_000001.10:g.40023786_40023804dup, NC_000001.10:g.40023785_40023804dup, NC_000001.10:g.40023784_40023804dup, NC_000001.10:g.40023783_40023804dup, NC_000001.10:g.40023782_40023804dup, NC_000001.10:g.40023781_40023804dup, NC_000001.10:g.40023780_40023804dup, NC_000001.10:g.40023779_40023804dup, NC_000001.10:g.40023778_40023804dup, NC_000001.10:g.40023777_40023804dup, NC_000001.10:g.40023776_40023804dup, NC_000001.10:g.40023775_40023804dup, NC_000001.10:g.40023774_40023804dup, NC_000001.10:g.40023804_40023805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.40023804_40023805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.40023804_40023805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.40023804_40023805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.40023804_40023805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.40023804_40023805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

              7.

              rs1491021082 has merged into rs374205135 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
                Chromosome:
                1:39542774 (GRCh38)
                1:40008446 (GRCh37)
                Canonical SPDI:
                NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACA,NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACACA,NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACACACA,NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:39542760:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
                Gene:
                PPIEL (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ACACACACACACACA=0./0 (ALFA)
                -=0.125/1 (KOREAN)
                HGVS:

                8.

                rs1490836414 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  1:39557035 (GRCh38)
                  1:40022707 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:39557034:C:A
                  Gene:
                  PPIEL (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.0105/106 (ALFA)
                  A=0.02886/476 (TOMMO)
                  A=0.20753/606 (KOREAN)
                  C=0.5/1 (SGDP_PRJ)
                  HGVS:

                  9.

                  rs1490783032 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:39552567 (GRCh38)
                    1:40018239 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:39552566:A:G
                    Gene:
                    PPIEL (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    G=0.000072/19 (TOPMED)
                    HGVS:

                    10.

                    rs1490651405 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:39527528 (GRCh38)
                      1:39993200 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:39527527:C:T
                      Gene:
                      BMP8A (Varview), PPIEL (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490427244 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        1:39522044 (GRCh38)
                        1:39987716 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:39522043:G:A,NC_000001.11:39522043:G:C
                        Gene:
                        BMP8A (Varview), PPIEL (Varview)
                        Functional Consequence:
                        intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.00016/1 (1000Genomes)
                        HGVS:

                        12.

                        rs1490403301 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:39521910 (GRCh38)
                          1:39987582 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:39521909:C:T
                          Gene:
                          BMP8A (Varview), PPIEL (Varview)
                          Functional Consequence:
                          intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1490197595 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            1:39559899 (GRCh38)
                            1:40025571 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:39559898:C:G
                            Gene:
                            PPIEL (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1490089346 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              1:39523040 (GRCh38)
                              1:39988712 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:39523039:T:A
                              Gene:
                              BMP8A (Varview), PPIEL (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1489991151 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->T [Show Flanks]
                                Chromosome:
                                1:39551056 (GRCh38)
                                1:40016729 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:39551056:T:TT
                                Gene:
                                PPIEL (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TT=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000011/3 (TOPMED)
                                HGVS:

                                16.

                                rs1489796384 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:39533554 (GRCh38)
                                  1:39999226 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:39533553:C:A
                                  Gene:
                                  PPIEL (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1489755525 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    1:39542299 (GRCh38)
                                    1:40007971 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:39542298:T:A,NC_000001.11:39542298:T:C
                                    Gene:
                                    PPIEL (Varview)
                                    Functional Consequence:
                                    intron_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.

                                    rs1489730028 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:39543486 (GRCh38)
                                      1:40009158 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:39543485:T:C
                                      Gene:
                                      PPIEL (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000015/4 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1489622679 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        1:39559691 (GRCh38)
                                        1:40025363 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:39559690:C:A,NC_000001.11:39559690:C:T
                                        Gene:
                                        PPIEL (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00004/1 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1489598507 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:39534292 (GRCh38)
                                          1:39999964 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:39534291:A:G
                                          Gene:
                                          PPIEL (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...