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1.

rs1491586045 has merged into rs58971788 [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,TTTTTTTTTTTTTTTTTTTTTTTGATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    1:206494602 (GRCh38)
    1:206667935 (GRCh37)
    Canonical SPDI:
    NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    IKBKE (Varview), C1orf147 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.206494602_206494621del, NC_000001.11:g.206494603_206494621del, NC_000001.11:g.206494604_206494621del, NC_000001.11:g.206494605_206494621del, NC_000001.11:g.206494606_206494621del, NC_000001.11:g.206494607_206494621del, NC_000001.11:g.206494608_206494621del, NC_000001.11:g.206494609_206494621del, NC_000001.11:g.206494610_206494621del, NC_000001.11:g.206494611_206494621del, NC_000001.11:g.206494612_206494621del, NC_000001.11:g.206494613_206494621del, NC_000001.11:g.206494614_206494621del, NC_000001.11:g.206494615_206494621del, NC_000001.11:g.206494616_206494621del, NC_000001.11:g.206494617_206494621del, NC_000001.11:g.206494618_206494621del, NC_000001.11:g.206494619_206494621del, NC_000001.11:g.206494620_206494621del, NC_000001.11:g.206494621del, NC_000001.11:g.206494621dup, NC_000001.11:g.206494620_206494621dup, NC_000001.11:g.206494619_206494621dup, NC_000001.11:g.206494593_206494621T[32]GATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.206494618_206494621dup, NC_000001.11:g.206494617_206494621dup, NC_000001.11:g.206494616_206494621dup, NC_000001.11:g.206494615_206494621dup, NC_000001.11:g.206494614_206494621dup, NC_000001.11:g.206494613_206494621dup, NC_000001.11:g.206494612_206494621dup, NC_000001.11:g.206494611_206494621dup, NC_000001.11:g.206494610_206494621dup, NC_000001.11:g.206494609_206494621dup, NC_000001.11:g.206494608_206494621dup, NC_000001.11:g.206494607_206494621dup, NC_000001.11:g.206494606_206494621dup, NC_000001.11:g.206494605_206494621dup, NC_000001.11:g.206494603_206494621dup, NC_000001.11:g.206494595_206494621dup, NC_000001.11:g.206494621_206494622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871057.1:g.485456_485475del, NW_003871057.1:g.485457_485475del, NW_003871057.1:g.485458_485475del, NW_003871057.1:g.485459_485475del, NW_003871057.1:g.485460_485475del, NW_003871057.1:g.485461_485475del, NW_003871057.1:g.485462_485475del, NW_003871057.1:g.485463_485475del, NW_003871057.1:g.485464_485475del, NW_003871057.1:g.485465_485475del, NW_003871057.1:g.485466_485475del, NW_003871057.1:g.485467_485475del, NW_003871057.1:g.485468_485475del, NW_003871057.1:g.485469_485475del, NW_003871057.1:g.485470_485475del, NW_003871057.1:g.485471_485475del, NW_003871057.1:g.485472_485475del, NW_003871057.1:g.485473_485475del, NW_003871057.1:g.485474_485475del, NW_003871057.1:g.485475del, NW_003871057.1:g.485475dup, NW_003871057.1:g.485474_485475dup, NW_003871057.1:g.485473_485475dup, NW_003871057.1:g.485447_485475T[32]GATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_003871057.1:g.485472_485475dup, NW_003871057.1:g.485471_485475dup, NW_003871057.1:g.485470_485475dup, NW_003871057.1:g.485469_485475dup, NW_003871057.1:g.485468_485475dup, NW_003871057.1:g.485467_485475dup, NW_003871057.1:g.485466_485475dup, NW_003871057.1:g.485465_485475dup, NW_003871057.1:g.485464_485475dup, NW_003871057.1:g.485463_485475dup, NW_003871057.1:g.485462_485475dup, NW_003871057.1:g.485461_485475dup, NW_003871057.1:g.485460_485475dup, NW_003871057.1:g.485459_485475dup, NW_003871057.1:g.485457_485475dup, NW_003871057.1:g.485449_485475dup, NW_003871057.1:g.485475_485476insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.206667935_206667954del, NC_000001.10:g.206667936_206667954del, NC_000001.10:g.206667937_206667954del, NC_000001.10:g.206667938_206667954del, NC_000001.10:g.206667939_206667954del, NC_000001.10:g.206667940_206667954del, NC_000001.10:g.206667941_206667954del, NC_000001.10:g.206667942_206667954del, NC_000001.10:g.206667943_206667954del, NC_000001.10:g.206667944_206667954del, NC_000001.10:g.206667945_206667954del, NC_000001.10:g.206667946_206667954del, NC_000001.10:g.206667947_206667954del, NC_000001.10:g.206667948_206667954del, NC_000001.10:g.206667949_206667954del, NC_000001.10:g.206667950_206667954del, NC_000001.10:g.206667951_206667954del, NC_000001.10:g.206667952_206667954del, NC_000001.10:g.206667953_206667954del, NC_000001.10:g.206667954del, NC_000001.10:g.206667954dup, NC_000001.10:g.206667953_206667954dup, NC_000001.10:g.206667952_206667954dup, NC_000001.10:g.206667926_206667954T[32]GATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.206667951_206667954dup, NC_000001.10:g.206667950_206667954dup, NC_000001.10:g.206667949_206667954dup, NC_000001.10:g.206667948_206667954dup, NC_000001.10:g.206667947_206667954dup, NC_000001.10:g.206667946_206667954dup, NC_000001.10:g.206667945_206667954dup, NC_000001.10:g.206667944_206667954dup, NC_000001.10:g.206667943_206667954dup, NC_000001.10:g.206667942_206667954dup, NC_000001.10:g.206667941_206667954dup, NC_000001.10:g.206667940_206667954dup, NC_000001.10:g.206667939_206667954dup, NC_000001.10:g.206667938_206667954dup, NC_000001.10:g.206667936_206667954dup, NC_000001.10:g.206667928_206667954dup, NC_000001.10:g.206667954_206667955insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491478831 has merged into rs33957066 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATAAACAAAAGCAAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      1:206494999 (GRCh38)
      1:206668332 (GRCh37)
      Canonical SPDI:
      NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206494986:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAACAAAAGCAAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      IKBKE (Varview), C1orf147 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAA=0./0 (ALFA)
      AA=0.4704/2356 (1000Genomes)
      HGVS:
      NC_000001.11:g.206494999_206495006del, NC_000001.11:g.206495000_206495006del, NC_000001.11:g.206495001_206495006del, NC_000001.11:g.206495002_206495006del, NC_000001.11:g.206495003_206495006del, NC_000001.11:g.206495004_206495006del, NC_000001.11:g.206495005_206495006del, NC_000001.11:g.206495006del, NC_000001.11:g.206495006dup, NC_000001.11:g.206495005_206495006dup, NC_000001.11:g.206495004_206495006dup, NC_000001.11:g.206495003_206495006dup, NC_000001.11:g.206495002_206495006dup, NC_000001.11:g.206495001_206495006dup, NC_000001.11:g.206495000_206495006dup, NC_000001.11:g.206494987_206495006A[27]TAAACAAAAGCAAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_003871057.1:g.485853_485860del, NW_003871057.1:g.485854_485860del, NW_003871057.1:g.485855_485860del, NW_003871057.1:g.485856_485860del, NW_003871057.1:g.485857_485860del, NW_003871057.1:g.485858_485860del, NW_003871057.1:g.485859_485860del, NW_003871057.1:g.485860del, NW_003871057.1:g.485860dup, NW_003871057.1:g.485859_485860dup, NW_003871057.1:g.485858_485860dup, NW_003871057.1:g.485857_485860dup, NW_003871057.1:g.485856_485860dup, NW_003871057.1:g.485855_485860dup, NW_003871057.1:g.485854_485860dup, NW_003871057.1:g.485841_485860A[27]TAAACAAAAGCAAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.206668332_206668339del, NC_000001.10:g.206668333_206668339del, NC_000001.10:g.206668334_206668339del, NC_000001.10:g.206668335_206668339del, NC_000001.10:g.206668336_206668339del, NC_000001.10:g.206668337_206668339del, NC_000001.10:g.206668338_206668339del, NC_000001.10:g.206668339del, NC_000001.10:g.206668339dup, NC_000001.10:g.206668338_206668339dup, NC_000001.10:g.206668337_206668339dup, NC_000001.10:g.206668336_206668339dup, NC_000001.10:g.206668335_206668339dup, NC_000001.10:g.206668334_206668339dup, NC_000001.10:g.206668333_206668339dup, NC_000001.10:g.206668320_206668339A[27]TAAACAAAAGCAAACAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

      3.

      rs1491444493 has merged into rs781893271 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        1:206494986 (GRCh38)
        1:206668319 (GRCh37)
        Canonical SPDI:
        NC_000001.11:206494985:TA:
        Gene:
        IKBKE (Varview), C1orf147 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00143/17 (ALFA)
        -=0.0445/165 (TWINSUK)
        -=0.04619/178 (ALSPAC)
        HGVS:

        4.

        rs1491321201 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G,GC [Show Flanks]
          Chromosome:
          1:206494593 (GRCh38)
          1:206667927 (GRCh37)
          Canonical SPDI:
          NC_000001.11:206494593::G,NC_000001.11:206494593::GC
          Gene:
          IKBKE (Varview), C1orf147 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GC=0./0 (ALFA)
          GC=0.00168/1 (NorthernSweden)
          HGVS:

          5.

          rs1491281442 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            1:206473960 (GRCh38)
            1:206647303 (GRCh37)
            Canonical SPDI:
            NC_000001.11:206473959:CA:
            Gene:
            IKBKE (Varview), MIR6769B (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.00236/28 (ALFA)
            -=0.00085/23 (TOMMO)
            HGVS:

            6.

            rs1491222725 has merged into rs57402838 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC [Show Flanks]
              Chromosome:
              1:206472603 (GRCh38)
              1:206645946 (GRCh37)
              Canonical SPDI:
              NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACAC,NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000001.11:206472587:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC
              Gene:
              IKBKE (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CACACACACACACACACAC=0./0 (ALFA)
              -=0.08303/320 (ALSPAC)
              -=0.085/51 (NorthernSweden)
              -=0.08522/316 (TWINSUK)
              HGVS:
              NC_000001.11:g.206472589AC[7], NC_000001.11:g.206472589AC[9], NC_000001.11:g.206472589AC[10], NC_000001.11:g.206472589AC[11], NC_000001.11:g.206472589AC[13], NC_000001.11:g.206472589AC[14], NC_000001.11:g.206472589AC[15], NC_000001.11:g.206472589AC[16], NC_000001.11:g.206472589AC[17], NW_003871057.1:g.463443AC[7], NW_003871057.1:g.463443AC[9], NW_003871057.1:g.463443AC[10], NW_003871057.1:g.463443AC[11], NW_003871057.1:g.463443AC[13], NW_003871057.1:g.463443AC[14], NW_003871057.1:g.463443AC[15], NW_003871057.1:g.463443AC[16], NW_003871057.1:g.463443AC[17], NC_000001.10:g.206645932AC[7], NC_000001.10:g.206645932AC[9], NC_000001.10:g.206645932AC[10], NC_000001.10:g.206645932AC[11], NC_000001.10:g.206645932AC[13], NC_000001.10:g.206645932AC[14], NC_000001.10:g.206645932AC[15], NC_000001.10:g.206645932AC[16], NC_000001.10:g.206645932AC[17]

              7.

              rs1491141676 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                1:206473960 (GRCh38)
                1:206647304 (GRCh37)
                Canonical SPDI:
                NC_000001.11:206473960::G
                Gene:
                IKBKE (Varview), MIR6769B (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:

                8.

                rs1491082044 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TT>- [Show Flanks]
                  Chromosome:
                  1:206484161 (GRCh38)
                  1:206657498 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:206484160:TT:
                  Gene:
                  IKBKE (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1490955570 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    1:206485059 (GRCh38)
                    1:206658396 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:206485058:C:A,NC_000001.11:206485058:C:G,NC_000001.11:206485058:C:T
                    Gene:
                    IKBKE (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000001.11:g.206485059C>A, NC_000001.11:g.206485059C>G, NC_000001.11:g.206485059C>T, NW_003871057.1:g.475913C>A, NW_003871057.1:g.475913C>G, NW_003871057.1:g.475913C>T, NC_000001.10:g.206658396C>A, NC_000001.10:g.206658396C>G, NC_000001.10:g.206658396C>T, NM_014002.4:c.1490C>A, NM_014002.4:c.1490C>G, NM_014002.4:c.1490C>T, NM_014002.3:c.1490C>A, NM_014002.3:c.1490C>G, NM_014002.3:c.1490C>T, XM_005273356.3:c.1490C>A, XM_005273356.3:c.1490C>G, XM_005273356.3:c.1490C>T, XM_005273356.2:c.1490C>A, XM_005273356.2:c.1490C>G, XM_005273356.2:c.1490C>T, XM_005273356.1:c.1490C>A, XM_005273356.1:c.1490C>G, XM_005273356.1:c.1490C>T, NM_001193322.2:c.1490C>A, NM_001193322.2:c.1490C>G, NM_001193322.2:c.1490C>T, NM_001193322.1:c.1490C>A, NM_001193322.1:c.1490C>G, NM_001193322.1:c.1490C>T, NM_001193321.2:c.1235C>A, NM_001193321.2:c.1235C>G, NM_001193321.2:c.1235C>T, NM_001193321.1:c.1235C>A, NM_001193321.1:c.1235C>G, NM_001193321.1:c.1235C>T, XM_047435018.1:c.1490C>A, XM_047435018.1:c.1490C>G, XM_047435018.1:c.1490C>T, XM_047435020.1:c.1490C>A, XM_047435020.1:c.1490C>G, XM_047435020.1:c.1490C>T, NP_054721.1:p.Ser497Tyr, NP_054721.1:p.Ser497Cys, NP_054721.1:p.Ser497Phe, XP_005273413.1:p.Ser497Tyr, XP_005273413.1:p.Ser497Cys, XP_005273413.1:p.Ser497Phe, NP_001180251.1:p.Ser497Tyr, NP_001180251.1:p.Ser497Cys, NP_001180251.1:p.Ser497Phe, NP_001180250.1:p.Ser412Tyr, NP_001180250.1:p.Ser412Cys, NP_001180250.1:p.Ser412Phe, XP_047290974.1:p.Ser497Tyr, XP_047290974.1:p.Ser497Cys, XP_047290974.1:p.Ser497Phe, XP_047290976.1:p.Ser497Tyr, XP_047290976.1:p.Ser497Cys, XP_047290976.1:p.Ser497Phe

                    10.

                    rs1490933441 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:206471230 (GRCh38)
                      1:206644573 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:206471229:C:T
                      Gene:
                      IKBKE (Varview)
                      Functional Consequence:
                      5_prime_UTR_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.

                      rs1490909178 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:206486126 (GRCh38)
                        1:206659463 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:206486125:T:C
                        Gene:
                        IKBKE (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000026/7 (TOPMED)
                        C=0.000029/4 (GnomAD)
                        HGVS:

                        12.

                        rs1490879837 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:206486811 (GRCh38)
                          1:206660148 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:206486810:G:C
                          Gene:
                          IKBKE (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1490838318 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:206492156 (GRCh38)
                            1:206665489 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:206492155:C:T
                            Gene:
                            IKBKE (Varview), C1orf147 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1490804712 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              1:206478217 (GRCh38)
                              1:206651560 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:206478216:C:G
                              Gene:
                              IKBKE (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490784828 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TG>- [Show Flanks]
                                Chromosome:
                                1:206475762 (GRCh38)
                                1:206649105 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:206475761:TG:
                                Gene:
                                IKBKE (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.00627/28 (ALFA)
                                -=0.00039/7 (TOMMO)
                                HGVS:

                                16.

                                rs1490566232 has merged into rs58971788 [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,TTTTTTTTTTTTTTTTTTTTTTTGATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  1:206494602 (GRCh38)
                                  1:206667935 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:206494592:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  IKBKE (Varview), C1orf147 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  NC_000001.11:g.206494602_206494621del, NC_000001.11:g.206494603_206494621del, NC_000001.11:g.206494604_206494621del, NC_000001.11:g.206494605_206494621del, NC_000001.11:g.206494606_206494621del, NC_000001.11:g.206494607_206494621del, NC_000001.11:g.206494608_206494621del, NC_000001.11:g.206494609_206494621del, NC_000001.11:g.206494610_206494621del, NC_000001.11:g.206494611_206494621del, NC_000001.11:g.206494612_206494621del, NC_000001.11:g.206494613_206494621del, NC_000001.11:g.206494614_206494621del, NC_000001.11:g.206494615_206494621del, NC_000001.11:g.206494616_206494621del, NC_000001.11:g.206494617_206494621del, NC_000001.11:g.206494618_206494621del, NC_000001.11:g.206494619_206494621del, NC_000001.11:g.206494620_206494621del, NC_000001.11:g.206494621del, NC_000001.11:g.206494621dup, NC_000001.11:g.206494620_206494621dup, NC_000001.11:g.206494619_206494621dup, NC_000001.11:g.206494593_206494621T[32]GATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.206494618_206494621dup, NC_000001.11:g.206494617_206494621dup, NC_000001.11:g.206494616_206494621dup, NC_000001.11:g.206494615_206494621dup, NC_000001.11:g.206494614_206494621dup, NC_000001.11:g.206494613_206494621dup, NC_000001.11:g.206494612_206494621dup, NC_000001.11:g.206494611_206494621dup, NC_000001.11:g.206494610_206494621dup, NC_000001.11:g.206494609_206494621dup, NC_000001.11:g.206494608_206494621dup, NC_000001.11:g.206494607_206494621dup, NC_000001.11:g.206494606_206494621dup, NC_000001.11:g.206494605_206494621dup, NC_000001.11:g.206494603_206494621dup, NC_000001.11:g.206494595_206494621dup, NC_000001.11:g.206494621_206494622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871057.1:g.485456_485475del, NW_003871057.1:g.485457_485475del, NW_003871057.1:g.485458_485475del, NW_003871057.1:g.485459_485475del, NW_003871057.1:g.485460_485475del, NW_003871057.1:g.485461_485475del, NW_003871057.1:g.485462_485475del, NW_003871057.1:g.485463_485475del, NW_003871057.1:g.485464_485475del, NW_003871057.1:g.485465_485475del, NW_003871057.1:g.485466_485475del, NW_003871057.1:g.485467_485475del, NW_003871057.1:g.485468_485475del, NW_003871057.1:g.485469_485475del, NW_003871057.1:g.485470_485475del, NW_003871057.1:g.485471_485475del, NW_003871057.1:g.485472_485475del, NW_003871057.1:g.485473_485475del, NW_003871057.1:g.485474_485475del, NW_003871057.1:g.485475del, NW_003871057.1:g.485475dup, NW_003871057.1:g.485474_485475dup, NW_003871057.1:g.485473_485475dup, NW_003871057.1:g.485447_485475T[32]GATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_003871057.1:g.485472_485475dup, NW_003871057.1:g.485471_485475dup, NW_003871057.1:g.485470_485475dup, NW_003871057.1:g.485469_485475dup, NW_003871057.1:g.485468_485475dup, NW_003871057.1:g.485467_485475dup, NW_003871057.1:g.485466_485475dup, NW_003871057.1:g.485465_485475dup, NW_003871057.1:g.485464_485475dup, NW_003871057.1:g.485463_485475dup, NW_003871057.1:g.485462_485475dup, NW_003871057.1:g.485461_485475dup, NW_003871057.1:g.485460_485475dup, NW_003871057.1:g.485459_485475dup, NW_003871057.1:g.485457_485475dup, NW_003871057.1:g.485449_485475dup, NW_003871057.1:g.485475_485476insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.206667935_206667954del, NC_000001.10:g.206667936_206667954del, NC_000001.10:g.206667937_206667954del, NC_000001.10:g.206667938_206667954del, NC_000001.10:g.206667939_206667954del, NC_000001.10:g.206667940_206667954del, NC_000001.10:g.206667941_206667954del, NC_000001.10:g.206667942_206667954del, NC_000001.10:g.206667943_206667954del, NC_000001.10:g.206667944_206667954del, NC_000001.10:g.206667945_206667954del, NC_000001.10:g.206667946_206667954del, NC_000001.10:g.206667947_206667954del, NC_000001.10:g.206667948_206667954del, NC_000001.10:g.206667949_206667954del, NC_000001.10:g.206667950_206667954del, NC_000001.10:g.206667951_206667954del, NC_000001.10:g.206667952_206667954del, NC_000001.10:g.206667953_206667954del, NC_000001.10:g.206667954del, NC_000001.10:g.206667954dup, NC_000001.10:g.206667953_206667954dup, NC_000001.10:g.206667952_206667954dup, NC_000001.10:g.206667926_206667954T[32]GATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.206667951_206667954dup, NC_000001.10:g.206667950_206667954dup, NC_000001.10:g.206667949_206667954dup, NC_000001.10:g.206667948_206667954dup, NC_000001.10:g.206667947_206667954dup, NC_000001.10:g.206667946_206667954dup, NC_000001.10:g.206667945_206667954dup, NC_000001.10:g.206667944_206667954dup, NC_000001.10:g.206667943_206667954dup, NC_000001.10:g.206667942_206667954dup, NC_000001.10:g.206667941_206667954dup, NC_000001.10:g.206667940_206667954dup, NC_000001.10:g.206667939_206667954dup, NC_000001.10:g.206667938_206667954dup, NC_000001.10:g.206667936_206667954dup, NC_000001.10:g.206667928_206667954dup, NC_000001.10:g.206667954_206667955insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                                  17.

                                  rs1490347698 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    1:206491606 (GRCh38)
                                    1:206664939 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:206491605:G:A,NC_000001.11:206491605:G:C
                                    Gene:
                                    IKBKE (Varview), C1orf147 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    C=0.000342/1 (KOREAN)
                                    HGVS:

                                    18.

                                    rs1490323876 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:206477730 (GRCh38)
                                      1:206651073 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:206477729:C:T
                                      Gene:
                                      IKBKE (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1490280071 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        1:206492704 (GRCh38)
                                        1:206666037 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:206492703:C:A,NC_000001.11:206492703:C:T
                                        Gene:
                                        IKBKE (Varview), C1orf147 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000029/4 (GnomAD)
                                        T=0.00006/1 (TOMMO)
                                        T=0.000079/21 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490028300 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:206476882 (GRCh38)
                                          1:206650225 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:206476881:C:T
                                          Gene:
                                          IKBKE (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000084/1 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000012/3 (GnomAD_exomes)
                                          HGVS:

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