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1.

rs1491521022 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    21:30339194 (GRCh38)
    21:31711513 (GRCh37)
    Canonical SPDI:
    NC_000021.9:30339194:C:CC
    Gene:
    KRTAP27-1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    C=0.00002/2 (GnomAD)
    HGVS:

    2.

    rs1491411129 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      21:30339195 (GRCh38)
      21:31711513 (GRCh37)
      Canonical SPDI:
      NC_000021.9:30339193:TCT:T
      Gene:
      KRTAP27-1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000169/2 (ALFA)
      -=0.000254/26 (GnomAD)
      HGVS:

      3.

      rs1491298462 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CT [Show Flanks]
        Chromosome:
        21:30339196 (GRCh38)
        21:31711515 (GRCh37)
        Canonical SPDI:
        NC_000021.9:30339196:T:TCT
        Gene:
        KRTAP27-1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        TCT=0./0 (ALFA)
        TC=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1491192125 has merged into rs10549229 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          21:30339205 (GRCh38)
          21:31711523 (GRCh37)
          Canonical SPDI:
          NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          KRTAP27-1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000021.9:g.30339205_30339218del, NC_000021.9:g.30339206_30339218del, NC_000021.9:g.30339208_30339218del, NC_000021.9:g.30339209_30339218del, NC_000021.9:g.30339210_30339218del, NC_000021.9:g.30339211_30339218del, NC_000021.9:g.30339212_30339218del, NC_000021.9:g.30339213_30339218del, NC_000021.9:g.30339214_30339218del, NC_000021.9:g.30339215_30339218del, NC_000021.9:g.30339216_30339218del, NC_000021.9:g.30339217_30339218del, NC_000021.9:g.30339218del, NC_000021.9:g.30339218dup, NC_000021.9:g.30339217_30339218dup, NC_000021.9:g.30339216_30339218dup, NC_000021.9:g.30339196_30339218T[26]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339215_30339218dup, NC_000021.9:g.30339196_30339218T[27]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339214_30339218dup, NC_000021.9:g.30339213_30339218dup, NC_000021.9:g.30339212_30339218dup, NC_000021.9:g.30339196_30339218T[30]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339211_30339218dup, NC_000021.9:g.30339210_30339218dup, NC_000021.9:g.30339196_30339218T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339209_30339218dup, NC_000021.9:g.30339208_30339218dup, NC_000021.9:g.30339207_30339218dup, NC_000021.9:g.30339206_30339218dup, NC_000021.9:g.30339196_30339218T[36]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339205_30339218dup, NC_000021.9:g.30339204_30339218dup, NC_000021.9:g.30339203_30339218dup, NC_000021.9:g.30339202_30339218dup, NC_000021.9:g.30339201_30339218dup, NC_000021.9:g.30339200_30339218dup, NC_000021.9:g.30339199_30339218dup, NC_000021.9:g.30339198_30339218dup, NC_000021.9:g.30339197_30339218dup, NC_000021.9:g.30339196_30339218dup, NC_000021.9:g.30339196_30339218T[46]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711523_31711536del, NC_000021.8:g.31711524_31711536del, NC_000021.8:g.31711526_31711536del, NC_000021.8:g.31711527_31711536del, NC_000021.8:g.31711528_31711536del, NC_000021.8:g.31711529_31711536del, NC_000021.8:g.31711530_31711536del, NC_000021.8:g.31711531_31711536del, NC_000021.8:g.31711532_31711536del, NC_000021.8:g.31711533_31711536del, NC_000021.8:g.31711534_31711536del, NC_000021.8:g.31711535_31711536del, NC_000021.8:g.31711536del, NC_000021.8:g.31711536dup, NC_000021.8:g.31711535_31711536dup, NC_000021.8:g.31711534_31711536dup, NC_000021.8:g.31711514_31711536T[26]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711533_31711536dup, NC_000021.8:g.31711514_31711536T[27]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711532_31711536dup, NC_000021.8:g.31711531_31711536dup, NC_000021.8:g.31711530_31711536dup, NC_000021.8:g.31711514_31711536T[30]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711529_31711536dup, NC_000021.8:g.31711528_31711536dup, NC_000021.8:g.31711514_31711536T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711527_31711536dup, NC_000021.8:g.31711526_31711536dup, NC_000021.8:g.31711525_31711536dup, NC_000021.8:g.31711524_31711536dup, NC_000021.8:g.31711514_31711536T[36]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711523_31711536dup, NC_000021.8:g.31711522_31711536dup, NC_000021.8:g.31711521_31711536dup, NC_000021.8:g.31711520_31711536dup, NC_000021.8:g.31711519_31711536dup, NC_000021.8:g.31711518_31711536dup, NC_000021.8:g.31711517_31711536dup, NC_000021.8:g.31711516_31711536dup, NC_000021.8:g.31711515_31711536dup, NC_000021.8:g.31711514_31711536dup, NC_000021.8:g.31711514_31711536T[46]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

          5.

          rs1489598067 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            21:30336626 (GRCh38)
            21:31708944 (GRCh37)
            Canonical SPDI:
            NC_000021.9:30336625:T:
            Gene:
            KRTAP27-1 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:

            6.

            rs1488959831 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              21:30338002 (GRCh38)
              21:31710320 (GRCh37)
              Canonical SPDI:
              NC_000021.9:30338001:A:T
              Gene:
              KRTAP27-1 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.00012/2 (ALFA)
              T=0.00046/2 (Estonian)
              HGVS:

              7.

              rs1488683337 has merged into rs10549229 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                21:30339205 (GRCh38)
                21:31711523 (GRCh37)
                Canonical SPDI:
                NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:30339195:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                KRTAP27-1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000021.9:g.30339205_30339218del, NC_000021.9:g.30339206_30339218del, NC_000021.9:g.30339208_30339218del, NC_000021.9:g.30339209_30339218del, NC_000021.9:g.30339210_30339218del, NC_000021.9:g.30339211_30339218del, NC_000021.9:g.30339212_30339218del, NC_000021.9:g.30339213_30339218del, NC_000021.9:g.30339214_30339218del, NC_000021.9:g.30339215_30339218del, NC_000021.9:g.30339216_30339218del, NC_000021.9:g.30339217_30339218del, NC_000021.9:g.30339218del, NC_000021.9:g.30339218dup, NC_000021.9:g.30339217_30339218dup, NC_000021.9:g.30339216_30339218dup, NC_000021.9:g.30339196_30339218T[26]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339215_30339218dup, NC_000021.9:g.30339196_30339218T[27]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339214_30339218dup, NC_000021.9:g.30339213_30339218dup, NC_000021.9:g.30339212_30339218dup, NC_000021.9:g.30339196_30339218T[30]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339211_30339218dup, NC_000021.9:g.30339210_30339218dup, NC_000021.9:g.30339196_30339218T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339209_30339218dup, NC_000021.9:g.30339208_30339218dup, NC_000021.9:g.30339207_30339218dup, NC_000021.9:g.30339206_30339218dup, NC_000021.9:g.30339196_30339218T[36]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339205_30339218dup, NC_000021.9:g.30339204_30339218dup, NC_000021.9:g.30339203_30339218dup, NC_000021.9:g.30339202_30339218dup, NC_000021.9:g.30339201_30339218dup, NC_000021.9:g.30339200_30339218dup, NC_000021.9:g.30339199_30339218dup, NC_000021.9:g.30339198_30339218dup, NC_000021.9:g.30339197_30339218dup, NC_000021.9:g.30339196_30339218dup, NC_000021.9:g.30339196_30339218T[46]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.9:g.30339218_30339219insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711523_31711536del, NC_000021.8:g.31711524_31711536del, NC_000021.8:g.31711526_31711536del, NC_000021.8:g.31711527_31711536del, NC_000021.8:g.31711528_31711536del, NC_000021.8:g.31711529_31711536del, NC_000021.8:g.31711530_31711536del, NC_000021.8:g.31711531_31711536del, NC_000021.8:g.31711532_31711536del, NC_000021.8:g.31711533_31711536del, NC_000021.8:g.31711534_31711536del, NC_000021.8:g.31711535_31711536del, NC_000021.8:g.31711536del, NC_000021.8:g.31711536dup, NC_000021.8:g.31711535_31711536dup, NC_000021.8:g.31711534_31711536dup, NC_000021.8:g.31711514_31711536T[26]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711533_31711536dup, NC_000021.8:g.31711514_31711536T[27]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711532_31711536dup, NC_000021.8:g.31711531_31711536dup, NC_000021.8:g.31711530_31711536dup, NC_000021.8:g.31711514_31711536T[30]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711529_31711536dup, NC_000021.8:g.31711528_31711536dup, NC_000021.8:g.31711514_31711536T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711527_31711536dup, NC_000021.8:g.31711526_31711536dup, NC_000021.8:g.31711525_31711536dup, NC_000021.8:g.31711524_31711536dup, NC_000021.8:g.31711514_31711536T[36]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711523_31711536dup, NC_000021.8:g.31711522_31711536dup, NC_000021.8:g.31711521_31711536dup, NC_000021.8:g.31711520_31711536dup, NC_000021.8:g.31711519_31711536dup, NC_000021.8:g.31711518_31711536dup, NC_000021.8:g.31711517_31711536dup, NC_000021.8:g.31711516_31711536dup, NC_000021.8:g.31711515_31711536dup, NC_000021.8:g.31711514_31711536dup, NC_000021.8:g.31711514_31711536T[46]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000021.8:g.31711536_31711537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                8.

                rs1488029169 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  21:30338421 (GRCh38)
                  21:31710739 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:30338420:A:C
                  Gene:
                  KRTAP27-1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_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.

                  rs1487554397 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    21:30337095 (GRCh38)
                    21:31709413 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:30337094:C:G,NC_000021.9:30337094:C:T
                    Gene:
                    KRTAP27-1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000043/1 (ALFA)
                    T=0.000008/2 (GnomAD_exomes)
                    T=0.000008/2 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:

                    10.

                    rs1486535190 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      21:30337021 (GRCh38)
                      21:31709339 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:30337020:A:G
                      Gene:
                      KRTAP27-1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000005/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1485757743 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        21:30339220 (GRCh38)
                        21:31711538 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:30339219:A:T
                        Gene:
                        KRTAP27-1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        T=0.00084/23 (TOMMO)
                        T=0.01409/41 (KOREAN)
                        HGVS:

                        12.

                        rs1485328136 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          21:30339241 (GRCh38)
                          21:31711559 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:30339240:C:A
                          Gene:
                          KRTAP27-1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000102/27 (TOPMED)
                          HGVS:

                          13.

                          rs1485255713 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            21:30338651 (GRCh38)
                            21:31710969 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:30338650:A:G
                            Gene:
                            KRTAP27-1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.0002/1 (ALFA)
                            G=0.0002/1 (Estonian)
                            HGVS:

                            14.

                            rs1484022479 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TCTTTT>-,TCTTTTTCTTTT [Show Flanks]
                              Chromosome:
                              21:30339189 (GRCh38)
                              21:31711507 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:30339174:TTTCTTTTTCTTTTTCTTTT:TTTCTTTTTCTTTT,NC_000021.9:30339174:TTTCTTTTTCTTTTTCTTTT:TTTCTTTTTCTTTTTCTTTTTCTTTT
                              Gene:
                              KRTAP27-1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TTTCTTTTTCTTTTTCTTTTTCTTTT=0./0 (ALFA)
                              -=0.000008/1 (GnomAD)
                              HGVS:

                              15.

                              rs1483730900 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                21:30339097 (GRCh38)
                                21:31711415 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:30339096:T:C
                                Gene:
                                KRTAP27-1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1483091555 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  21:30338713 (GRCh38)
                                  21:31711031 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:30338712:C:T
                                  Gene:
                                  KRTAP27-1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1482957807 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CTTTTTCTTT>- [Show Flanks]
                                    Chromosome:
                                    21:30339178 (GRCh38)
                                    21:31711496 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:30339170:TTTCTTTCTTTTTCTTT:TTTCTTT
                                    Gene:
                                    KRTAP27-1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TTTCTTT=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1482459267 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      21:30338876 (GRCh38)
                                      21:31711194 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:30338875:A:G
                                      Gene:
                                      KRTAP27-1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000035/1 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1482080588 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        21:30338251 (GRCh38)
                                        21:31710569 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:30338250:A:G
                                        Gene:
                                        KRTAP27-1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1481580490 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          21:30337258 (GRCh38)
                                          21:31709576 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:30337257:C:T
                                          Gene:
                                          KRTAP27-1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000035/1 (TOMMO)
                                          HGVS:

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