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1.

rs1491569678 has merged into rs9281035 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    6:30763363 (GRCh38)
    6:30731140 (GRCh37)
    Canonical SPDI:
    NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30763348:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.17652/884 (1000Genomes)
    HGVS:
    NC_000006.12:g.30763363_30763365del, NC_000006.12:g.30763364_30763365del, NC_000006.12:g.30763365del, NC_000006.12:g.30763365dup, NC_000006.12:g.30763364_30763365dup, NC_000006.12:g.30763363_30763365dup, NC_000006.12:g.30763362_30763365dup, NC_000006.12:g.30763361_30763365dup, NC_000006.12:g.30763360_30763365dup, NC_000006.12:g.30763359_30763365dup, NC_000006.12:g.30763358_30763365dup, NC_000006.12:g.30763356_30763365dup, NC_000006.12:g.30763349_30763365dup, NC_000006.12:g.30763365_30763366insTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.30763365_30763366insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.30731140_30731142del, NC_000006.11:g.30731141_30731142del, NC_000006.11:g.30731142del, NC_000006.11:g.30731142dup, NC_000006.11:g.30731141_30731142dup, NC_000006.11:g.30731140_30731142dup, NC_000006.11:g.30731139_30731142dup, NC_000006.11:g.30731138_30731142dup, NC_000006.11:g.30731137_30731142dup, NC_000006.11:g.30731136_30731142dup, NC_000006.11:g.30731135_30731142dup, NC_000006.11:g.30731133_30731142dup, NC_000006.11:g.30731126_30731142dup, NC_000006.11:g.30731142_30731143insTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.30731142_30731143insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.3:g.2243078_2243080del, NT_113891.3:g.2243079_2243080del, NT_113891.3:g.2243080del, NT_113891.3:g.2243080dup, NT_113891.3:g.2243079_2243080dup, NT_113891.3:g.2243078_2243080dup, NT_113891.3:g.2243077_2243080dup, NT_113891.3:g.2243076_2243080dup, NT_113891.3:g.2243075_2243080dup, NT_113891.3:g.2243074_2243080dup, NT_113891.3:g.2243073_2243080dup, NT_113891.3:g.2243071_2243080dup, NT_113891.3:g.2243064_2243080dup, NT_113891.3:g.2243062_2243080dup, NT_113891.3:g.2243080_2243081insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.2:g.2243184_2243186del, NT_113891.2:g.2243185_2243186del, NT_113891.2:g.2243186del, NT_113891.2:g.2243186dup, NT_113891.2:g.2243185_2243186dup, NT_113891.2:g.2243184_2243186dup, NT_113891.2:g.2243183_2243186dup, NT_113891.2:g.2243182_2243186dup, NT_113891.2:g.2243181_2243186dup, NT_113891.2:g.2243180_2243186dup, NT_113891.2:g.2243179_2243186dup, NT_113891.2:g.2243177_2243186dup, NT_113891.2:g.2243170_2243186dup, NT_113891.2:g.2243168_2243186dup, NT_113891.2:g.2243186_2243187insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.2:g.2018458_2018460del, NT_167248.2:g.2018459_2018460del, NT_167248.2:g.2018460del, NT_167248.2:g.2018460dup, NT_167248.2:g.2018459_2018460dup, NT_167248.2:g.2018458_2018460dup, NT_167248.2:g.2018457_2018460dup, NT_167248.2:g.2018456_2018460dup, NT_167248.2:g.2018455_2018460dup, NT_167248.2:g.2018454_2018460dup, NT_167248.2:g.2018453_2018460dup, NT_167248.2:g.2018451_2018460dup, NT_167248.2:g.2018444_2018460dup, NT_167248.2:g.2018460_2018461insTTTTTTTTTTTTTTTTTTT, NT_167248.2:g.2018460_2018461insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.2024054_2024056del, NT_167248.1:g.2024055_2024056del, NT_167248.1:g.2024056del, NT_167248.1:g.2024056dup, NT_167248.1:g.2024055_2024056dup, NT_167248.1:g.2024054_2024056dup, NT_167248.1:g.2024053_2024056dup, NT_167248.1:g.2024052_2024056dup, NT_167248.1:g.2024051_2024056dup, NT_167248.1:g.2024050_2024056dup, NT_167248.1:g.2024049_2024056dup, NT_167248.1:g.2024047_2024056dup, NT_167248.1:g.2024040_2024056dup, NT_167248.1:g.2024056_2024057insTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.2024056_2024057insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167245.2:g.2019337_2019339del, NT_167245.2:g.2019338_2019339del, NT_167245.2:g.2019339del, NT_167245.2:g.2019339dup, NT_167245.2:g.2019338_2019339dup, NT_167245.2:g.2019337_2019339dup, NT_167245.2:g.2019336_2019339dup, NT_167245.2:g.2019335_2019339dup, NT_167245.2:g.2019334_2019339dup, NT_167245.2:g.2019333_2019339dup, NT_167245.2:g.2019332_2019339dup, NT_167245.2:g.2019330_2019339dup, NT_167245.2:g.2019323_2019339dup, NT_167245.2:g.2019339_2019340insTTTTTTTTTTTTTTTTTTT, NT_167245.2:g.2019339_2019340insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167245.1:g.2024922_2024924del, NT_167245.1:g.2024923_2024924del, NT_167245.1:g.2024924del, NT_167245.1:g.2024924dup, NT_167245.1:g.2024923_2024924dup, NT_167245.1:g.2024922_2024924dup, NT_167245.1:g.2024921_2024924dup, NT_167245.1:g.2024920_2024924dup, NT_167245.1:g.2024919_2024924dup, NT_167245.1:g.2024918_2024924dup, NT_167245.1:g.2024917_2024924dup, NT_167245.1:g.2024915_2024924dup, NT_167245.1:g.2024908_2024924dup, NT_167245.1:g.2024924_2024925insTTTTTTTTTTTTTTTTTTT, NT_167245.1:g.2024924_2024925insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167246.2:g.2073605_2073607del, NT_167246.2:g.2073606_2073607del, NT_167246.2:g.2073607del, NT_167246.2:g.2073607dup, NT_167246.2:g.2073606_2073607dup, NT_167246.2:g.2073605_2073607dup, NT_167246.2:g.2073604_2073607dup, NT_167246.2:g.2073603_2073607dup, NT_167246.2:g.2073602_2073607dup, NT_167246.2:g.2073601_2073607dup, NT_167246.2:g.2073600_2073607dup, NT_167246.2:g.2073598_2073607dup, NT_167246.2:g.2073591_2073607dup, NT_167246.2:g.2073607_2073608insTTTTTTTTTTTTTTTTTTT, NT_167246.2:g.2073607_2073608insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167246.1:g.2079225_2079227del, NT_167246.1:g.2079226_2079227del, NT_167246.1:g.2079227del, NT_167246.1:g.2079227dup, NT_167246.1:g.2079226_2079227dup, NT_167246.1:g.2079225_2079227dup, NT_167246.1:g.2079224_2079227dup, NT_167246.1:g.2079223_2079227dup, NT_167246.1:g.2079222_2079227dup, NT_167246.1:g.2079221_2079227dup, NT_167246.1:g.2079220_2079227dup, NT_167246.1:g.2079218_2079227dup, NT_167246.1:g.2079211_2079227dup, NT_167246.1:g.2079227_2079228insTTTTTTTTTTTTTTTTTTT, NT_167246.1:g.2079227_2079228insTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491519373 has merged into rs9278766 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      6:30786348 (GRCh38)
      6:30754125 (GRCh37)
      Canonical SPDI:
      NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:30786336:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      HCG20 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTT=0./0 (ALFA)
      T=0.1276/639 (1000Genomes)
      HGVS:
      NC_000006.12:g.30786348_30786354del, NC_000006.12:g.30786349_30786354del, NC_000006.12:g.30786350_30786354del, NC_000006.12:g.30786351_30786354del, NC_000006.12:g.30786352_30786354del, NC_000006.12:g.30786353_30786354del, NC_000006.12:g.30786354del, NC_000006.12:g.30786354dup, NC_000006.12:g.30786353_30786354dup, NC_000006.12:g.30786352_30786354dup, NC_000006.12:g.30786351_30786354dup, NC_000006.12:g.30786350_30786354dup, NC_000006.12:g.30786349_30786354dup, NC_000006.12:g.30786348_30786354dup, NC_000006.12:g.30786347_30786354dup, NC_000006.12:g.30786346_30786354dup, NC_000006.12:g.30786343_30786354dup, NC_000006.12:g.30786342_30786354dup, NC_000006.12:g.30786354_30786355insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.30786354_30786355insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.30786354_30786355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.30754125_30754131del, NC_000006.11:g.30754126_30754131del, NC_000006.11:g.30754127_30754131del, NC_000006.11:g.30754128_30754131del, NC_000006.11:g.30754129_30754131del, NC_000006.11:g.30754130_30754131del, NC_000006.11:g.30754131del, NC_000006.11:g.30754131dup, NC_000006.11:g.30754130_30754131dup, NC_000006.11:g.30754129_30754131dup, NC_000006.11:g.30754128_30754131dup, NC_000006.11:g.30754127_30754131dup, NC_000006.11:g.30754126_30754131dup, NC_000006.11:g.30754125_30754131dup, NC_000006.11:g.30754124_30754131dup, NC_000006.11:g.30754123_30754131dup, NC_000006.11:g.30754120_30754131dup, NC_000006.11:g.30754119_30754131dup, NC_000006.11:g.30754131_30754132insTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.30754131_30754132insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.30754131_30754132insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.3:g.2266066dup, NT_113891.3:g.2266061_2266066del, NT_113891.3:g.2266062_2266066del, NT_113891.3:g.2266063_2266066del, NT_113891.3:g.2266064_2266066del, NT_113891.3:g.2266065_2266066del, NT_113891.3:g.2266066del, NT_113891.3:g.2266065_2266066dup, NT_113891.3:g.2266064_2266066dup, NT_113891.3:g.2266063_2266066dup, NT_113891.3:g.2266062_2266066dup, NT_113891.3:g.2266061_2266066dup, NT_113891.3:g.2266060_2266066dup, NT_113891.3:g.2266059_2266066dup, NT_113891.3:g.2266058_2266066dup, NT_113891.3:g.2266057_2266066dup, NT_113891.3:g.2266054_2266066dup, NT_113891.3:g.2266053_2266066dup, NT_113891.3:g.2266066_2266067insTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.3:g.2266066_2266067insTTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.3:g.2266066_2266067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.2:g.2041437dup, NT_167248.2:g.2041432_2041437del, NT_167248.2:g.2041433_2041437del, NT_167248.2:g.2041434_2041437del, NT_167248.2:g.2041435_2041437del, NT_167248.2:g.2041436_2041437del, NT_167248.2:g.2041437del, NT_167248.2:g.2041436_2041437dup, NT_167248.2:g.2041435_2041437dup, NT_167248.2:g.2041434_2041437dup, NT_167248.2:g.2041433_2041437dup, NT_167248.2:g.2041432_2041437dup, NT_167248.2:g.2041431_2041437dup, NT_167248.2:g.2041430_2041437dup, NT_167248.2:g.2041429_2041437dup, NT_167248.2:g.2041428_2041437dup, NT_167248.2:g.2041425_2041437dup, NT_167248.2:g.2041424_2041437dup, NT_167248.2:g.2041437_2041438insTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.2:g.2041437_2041438insTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.2:g.2041437_2041438insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167246.2:g.2096590_2096596del, NT_167246.2:g.2096591_2096596del, NT_167246.2:g.2096592_2096596del, NT_167246.2:g.2096593_2096596del, NT_167246.2:g.2096594_2096596del, NT_167246.2:g.2096595_2096596del, NT_167246.2:g.2096596del, NT_167246.2:g.2096596dup, NT_167246.2:g.2096595_2096596dup, NT_167246.2:g.2096594_2096596dup, NT_167246.2:g.2096593_2096596dup, NT_167246.2:g.2096592_2096596dup, NT_167246.2:g.2096591_2096596dup, NT_167246.2:g.2096590_2096596dup, NT_167246.2:g.2096589_2096596dup, NT_167246.2:g.2096588_2096596dup, NT_167246.2:g.2096585_2096596dup, NT_167246.2:g.2096584_2096596dup, NT_167246.2:g.2096596_2096597insTTTTTTTTTTTTTTTTTTTTTT, NT_167246.2:g.2096596_2096597insTTTTTTTTTTTTTTTTTTTTTTT, NT_167246.2:g.2096596_2096597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167246.1:g.2102210_2102216del, NT_167246.1:g.2102211_2102216del, NT_167246.1:g.2102212_2102216del, NT_167246.1:g.2102213_2102216del, NT_167246.1:g.2102214_2102216del, NT_167246.1:g.2102215_2102216del, NT_167246.1:g.2102216del, NT_167246.1:g.2102216dup, NT_167246.1:g.2102215_2102216dup, NT_167246.1:g.2102214_2102216dup, NT_167246.1:g.2102213_2102216dup, NT_167246.1:g.2102212_2102216dup, NT_167246.1:g.2102211_2102216dup, NT_167246.1:g.2102210_2102216dup, NT_167246.1:g.2102209_2102216dup, NT_167246.1:g.2102208_2102216dup, NT_167246.1:g.2102205_2102216dup, NT_167246.1:g.2102204_2102216dup, NT_167246.1:g.2102216_2102217insTTTTTTTTTTTTTTTTTTTTTT, NT_167246.1:g.2102216_2102217insTTTTTTTTTTTTTTTTTTTTTTT, NT_167246.1:g.2102216_2102217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.2:g.2266172dup, NT_113891.2:g.2266167_2266172del, NT_113891.2:g.2266168_2266172del, NT_113891.2:g.2266169_2266172del, NT_113891.2:g.2266170_2266172del, NT_113891.2:g.2266171_2266172del, NT_113891.2:g.2266172del, NT_113891.2:g.2266171_2266172dup, NT_113891.2:g.2266170_2266172dup, NT_113891.2:g.2266169_2266172dup, NT_113891.2:g.2266168_2266172dup, NT_113891.2:g.2266167_2266172dup, NT_113891.2:g.2266166_2266172dup, NT_113891.2:g.2266165_2266172dup, NT_113891.2:g.2266164_2266172dup, NT_113891.2:g.2266163_2266172dup, NT_113891.2:g.2266160_2266172dup, NT_113891.2:g.2266159_2266172dup, NT_113891.2:g.2266172_2266173insTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.2:g.2266172_2266173insTTTTTTTTTTTTTTTTTTTTTTTT, NT_113891.2:g.2266172_2266173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.2047033dup, NT_167248.1:g.2047028_2047033del, NT_167248.1:g.2047029_2047033del, NT_167248.1:g.2047030_2047033del, NT_167248.1:g.2047031_2047033del, NT_167248.1:g.2047032_2047033del, NT_167248.1:g.2047033del, NT_167248.1:g.2047032_2047033dup, NT_167248.1:g.2047031_2047033dup, NT_167248.1:g.2047030_2047033dup, NT_167248.1:g.2047029_2047033dup, NT_167248.1:g.2047028_2047033dup, NT_167248.1:g.2047027_2047033dup, NT_167248.1:g.2047026_2047033dup, NT_167248.1:g.2047025_2047033dup, NT_167248.1:g.2047024_2047033dup, NT_167248.1:g.2047021_2047033dup, NT_167248.1:g.2047020_2047033dup, NT_167248.1:g.2047033_2047034insTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.2047033_2047034insTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.2047033_2047034insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491387519 has merged into rs9278754 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TATATATATATATATATATATATATATATATATATATATATATATATATA>-,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
        Chromosome:
        6:30746545 (GRCh38)
        6:30714322 (GRCh37)
        Canonical SPDI:
        NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:30746541:ATATATATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
        Gene:
        IER3 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ATATATATATA=0./0 (ALFA)
        ATATATATATATATATATATATATATATATATAT=0.125/5 (GENOME_DK)
        HGVS:
        NC_000006.12:g.30746543TA[1], NC_000006.12:g.30746543TA[5], NC_000006.12:g.30746543TA[6], NC_000006.12:g.30746543TA[7], NC_000006.12:g.30746543TA[8], NC_000006.12:g.30746543TA[9], NC_000006.12:g.30746543TA[10], NC_000006.12:g.30746543TA[11], NC_000006.12:g.30746543TA[12], NC_000006.12:g.30746543TA[13], NC_000006.12:g.30746543TA[14], NC_000006.12:g.30746543TA[15], NC_000006.12:g.30746543TA[16], NC_000006.12:g.30746543TA[17], NC_000006.12:g.30746543TA[18], NC_000006.12:g.30746543TA[19], NC_000006.12:g.30746543TA[20], NC_000006.12:g.30746543TA[21], NC_000006.12:g.30746543TA[22], NC_000006.12:g.30746543TA[23], NC_000006.12:g.30746543TA[24], NC_000006.12:g.30746543TA[25], NC_000006.12:g.30746543TA[27], NC_000006.12:g.30746543TA[28], NC_000006.12:g.30746543TA[29], NC_000006.12:g.30746543TA[30], NC_000006.12:g.30746543TA[31], NC_000006.12:g.30746543TA[32], NC_000006.12:g.30746543TA[33], NC_000006.12:g.30746543TA[34], NC_000006.12:g.30746543TA[35], NC_000006.12:g.30746543TA[39], NC_000006.12:g.30746543TA[42], NC_000006.11:g.30714320TA[1], NC_000006.11:g.30714320TA[5], NC_000006.11:g.30714320TA[6], NC_000006.11:g.30714320TA[7], NC_000006.11:g.30714320TA[8], NC_000006.11:g.30714320TA[9], NC_000006.11:g.30714320TA[10], NC_000006.11:g.30714320TA[11], NC_000006.11:g.30714320TA[12], NC_000006.11:g.30714320TA[13], NC_000006.11:g.30714320TA[14], NC_000006.11:g.30714320TA[15], NC_000006.11:g.30714320TA[16], NC_000006.11:g.30714320TA[17], NC_000006.11:g.30714320TA[18], NC_000006.11:g.30714320TA[19], NC_000006.11:g.30714320TA[20], NC_000006.11:g.30714320TA[21], NC_000006.11:g.30714320TA[22], NC_000006.11:g.30714320TA[23], NC_000006.11:g.30714320TA[24], NC_000006.11:g.30714320TA[25], NC_000006.11:g.30714320TA[27], NC_000006.11:g.30714320TA[28], NC_000006.11:g.30714320TA[29], NC_000006.11:g.30714320TA[30], NC_000006.11:g.30714320TA[31], NC_000006.11:g.30714320TA[32], NC_000006.11:g.30714320TA[33], NC_000006.11:g.30714320TA[34], NC_000006.11:g.30714320TA[35], NC_000006.11:g.30714320TA[39], NC_000006.11:g.30714320TA[42], NT_113891.3:g.2226283TA[26], NT_113891.3:g.2226283TA[1], NT_113891.3:g.2226283TA[5], NT_113891.3:g.2226283TA[6], NT_113891.3:g.2226283TA[7], NT_113891.3:g.2226283TA[8], NT_113891.3:g.2226283TA[10], NT_113891.3:g.2226283TA[11], NT_113891.3:g.2226283TA[12], NT_113891.3:g.2226283TA[13], NT_113891.3:g.2226283TA[14], NT_113891.3:g.2226283TA[15], NT_113891.3:g.2226283TA[16], NT_113891.3:g.2226283TA[17], NT_113891.3:g.2226283TA[18], NT_113891.3:g.2226283TA[19], NT_113891.3:g.2226283TA[20], NT_113891.3:g.2226283TA[21], NT_113891.3:g.2226283TA[22], NT_113891.3:g.2226283TA[23], NT_113891.3:g.2226283TA[24], NT_113891.3:g.2226283TA[25], NT_113891.3:g.2226283TA[27], NT_113891.3:g.2226283TA[28], NT_113891.3:g.2226283TA[29], NT_113891.3:g.2226283TA[30], NT_113891.3:g.2226283TA[31], NT_113891.3:g.2226283TA[32], NT_113891.3:g.2226283TA[33], NT_113891.3:g.2226283TA[34], NT_113891.3:g.2226283TA[35], NT_113891.3:g.2226283TA[39], NT_113891.3:g.2226283TA[42], NT_167248.2:g.2001653TA[26], NT_167248.2:g.2001653TA[1], NT_167248.2:g.2001653TA[5], NT_167248.2:g.2001653TA[6], NT_167248.2:g.2001653TA[7], NT_167248.2:g.2001653TA[8], NT_167248.2:g.2001653TA[9], NT_167248.2:g.2001653TA[10], NT_167248.2:g.2001653TA[11], NT_167248.2:g.2001653TA[12], NT_167248.2:g.2001653TA[13], NT_167248.2:g.2001653TA[14], NT_167248.2:g.2001653TA[15], NT_167248.2:g.2001653TA[16], NT_167248.2:g.2001653TA[18], NT_167248.2:g.2001653TA[19], NT_167248.2:g.2001653TA[20], NT_167248.2:g.2001653TA[21], NT_167248.2:g.2001653TA[22], NT_167248.2:g.2001653TA[23], NT_167248.2:g.2001653TA[24], NT_167248.2:g.2001653TA[25], NT_167248.2:g.2001653TA[27], NT_167248.2:g.2001653TA[28], NT_167248.2:g.2001653TA[29], NT_167248.2:g.2001653TA[30], NT_167248.2:g.2001653TA[31], NT_167248.2:g.2001653TA[32], NT_167248.2:g.2001653TA[33], NT_167248.2:g.2001653TA[34], NT_167248.2:g.2001653TA[35], NT_167248.2:g.2001653TA[39], NT_167248.2:g.2001653TA[42], NT_167245.2:g.2002432A>T, NT_167245.2:g.2002400_2002449del, NT_167245.2:g.2002408_2002449del, NT_167245.2:g.2002410_2002449del, NT_167245.2:g.2002412_2002449del, NT_167245.2:g.2002414_2002449del, NT_167245.2:g.2002416_2002449del, NT_167245.2:g.2002418_2002449del, NT_167245.2:g.2002420_2002449del, NT_167245.2:g.2002422_2002449del, NT_167245.2:g.2002424_2002449del, NT_167245.2:g.2002426_2002449del, NT_167245.2:g.2002428_2002449del, NT_167245.2:g.2002430_2002449del, NT_167245.2:g.2002432AATATATATATATATATA[1], NT_167245.2:g.2002432_2002447del, NT_167245.2:g.2002432_2002445del, NT_167245.2:g.2002432_2002443del, NT_167245.2:g.2002432_2002441del, NT_167245.2:g.2002432_2002439del, NT_167245.2:g.2002432_2002437del, NT_167245.2:g.2002432_2002435del, NT_167245.2:g.2002432_2002433del, NT_167245.2:g.2002432delinsTAT, NT_167245.2:g.2002432delinsTATAT, NT_167245.2:g.2002432delinsTATATAT, NT_167245.2:g.2002432delinsTATATATAT, NT_167245.2:g.2002432delinsTATATATATAT, NT_167245.2:g.2002432delinsTATATATATATAT, NT_167245.2:g.2002432delinsTATATATATATATAT, NT_167245.2:g.2002432delinsTATATATATATATATAT, NT_167245.2:g.2002432delinsTATATATATATATATATAT, NT_167245.2:g.2002432delinsTATATATATATATATATATATATATAT, NT_167245.2:g.2002432delinsTATATATATATATATATATATATATATATATAT, NT_167245.1:g.2008017A>T, NT_167245.1:g.2007985_2008034del, NT_167245.1:g.2007993_2008034del, NT_167245.1:g.2007995_2008034del, NT_167245.1:g.2007997_2008034del, NT_167245.1:g.2007999_2008034del, NT_167245.1:g.2008001_2008034del, NT_167245.1:g.2008003_2008034del, NT_167245.1:g.2008005_2008034del, NT_167245.1:g.2008007_2008034del, NT_167245.1:g.2008009_2008034del, NT_167245.1:g.2008011_2008034del, NT_167245.1:g.2008013_2008034del, NT_167245.1:g.2008015_2008034del, NT_167245.1:g.2008017AATATATATATATATATA[1], NT_167245.1:g.2008017_2008032del, NT_167245.1:g.2008017_2008030del, NT_167245.1:g.2008017_2008028del, NT_167245.1:g.2008017_2008026del, NT_167245.1:g.2008017_2008024del, NT_167245.1:g.2008017_2008022del, NT_167245.1:g.2008017_2008020del, NT_167245.1:g.2008017_2008018del, NT_167245.1:g.2008017delinsTAT, NT_167245.1:g.2008017delinsTATAT, NT_167245.1:g.2008017delinsTATATAT, NT_167245.1:g.2008017delinsTATATATAT, NT_167245.1:g.2008017delinsTATATATATAT, NT_167245.1:g.2008017delinsTATATATATATAT, NT_167245.1:g.2008017delinsTATATATATATATAT, NT_167245.1:g.2008017delinsTATATATATATATATAT, NT_167245.1:g.2008017delinsTATATATATATATATATAT, NT_167245.1:g.2008017delinsTATATATATATATATATATATATATAT, NT_167245.1:g.2008017delinsTATATATATATATATATATATATATATATATAT, NT_167249.2:g.2047339TA[26], NT_167249.2:g.2047339TA[1], NT_167249.2:g.2047339TA[5], NT_167249.2:g.2047339TA[6], NT_167249.2:g.2047339TA[7], NT_167249.2:g.2047339TA[8], NT_167249.2:g.2047339TA[9], NT_167249.2:g.2047339TA[10], NT_167249.2:g.2047339TA[11], NT_167249.2:g.2047339TA[13], NT_167249.2:g.2047339TA[14], NT_167249.2:g.2047339TA[15], NT_167249.2:g.2047339TA[16], NT_167249.2:g.2047339TA[17], NT_167249.2:g.2047339TA[18], NT_167249.2:g.2047339TA[19], NT_167249.2:g.2047339TA[20], NT_167249.2:g.2047339TA[21], NT_167249.2:g.2047339TA[22], NT_167249.2:g.2047339TA[23], NT_167249.2:g.2047339TA[24], NT_167249.2:g.2047339TA[25], NT_167249.2:g.2047339TA[27], NT_167249.2:g.2047339TA[28], NT_167249.2:g.2047339TA[29], NT_167249.2:g.2047339TA[30], NT_167249.2:g.2047339TA[31], NT_167249.2:g.2047339TA[32], NT_167249.2:g.2047339TA[33], NT_167249.2:g.2047339TA[34], NT_167249.2:g.2047339TA[35], NT_167249.2:g.2047339TA[39], NT_167249.2:g.2047339TA[42], NT_167246.2:g.2056794TA[26], NT_167246.2:g.2056794TA[1], NT_167246.2:g.2056794TA[5], NT_167246.2:g.2056794TA[6], NT_167246.2:g.2056794TA[7], NT_167246.2:g.2056794TA[8], NT_167246.2:g.2056794TA[9], NT_167246.2:g.2056794TA[10], NT_167246.2:g.2056794TA[11], NT_167246.2:g.2056794TA[12], NT_167246.2:g.2056794TA[13], NT_167246.2:g.2056794TA[14], NT_167246.2:g.2056794TA[15], NT_167246.2:g.2056794TA[16], NT_167246.2:g.2056794TA[17], NT_167246.2:g.2056794TA[18], NT_167246.2:g.2056794TA[19], NT_167246.2:g.2056794TA[20], NT_167246.2:g.2056794TA[22], NT_167246.2:g.2056794TA[23], NT_167246.2:g.2056794TA[24], NT_167246.2:g.2056794TA[25], NT_167246.2:g.2056794TA[27], NT_167246.2:g.2056794TA[28], NT_167246.2:g.2056794TA[29], NT_167246.2:g.2056794TA[30], NT_167246.2:g.2056794TA[31], NT_167246.2:g.2056794TA[32], NT_167246.2:g.2056794TA[33], NT_167246.2:g.2056794TA[34], NT_167246.2:g.2056794TA[35], NT_167246.2:g.2056794TA[39], NT_167246.2:g.2056794TA[42], NT_113891.2:g.2226389TA[26], NT_113891.2:g.2226389TA[1], NT_113891.2:g.2226389TA[5], NT_113891.2:g.2226389TA[6], NT_113891.2:g.2226389TA[7], NT_113891.2:g.2226389TA[8], NT_113891.2:g.2226389TA[10], NT_113891.2:g.2226389TA[11], NT_113891.2:g.2226389TA[12], NT_113891.2:g.2226389TA[13], NT_113891.2:g.2226389TA[14], NT_113891.2:g.2226389TA[15], NT_113891.2:g.2226389TA[16], NT_113891.2:g.2226389TA[17], NT_113891.2:g.2226389TA[18], NT_113891.2:g.2226389TA[19], NT_113891.2:g.2226389TA[20], NT_113891.2:g.2226389TA[21], NT_113891.2:g.2226389TA[22], NT_113891.2:g.2226389TA[23], NT_113891.2:g.2226389TA[24], NT_113891.2:g.2226389TA[25], NT_113891.2:g.2226389TA[27], NT_113891.2:g.2226389TA[28], NT_113891.2:g.2226389TA[29], NT_113891.2:g.2226389TA[30], NT_113891.2:g.2226389TA[31], NT_113891.2:g.2226389TA[32], NT_113891.2:g.2226389TA[33], NT_113891.2:g.2226389TA[34], NT_113891.2:g.2226389TA[35], NT_113891.2:g.2226389TA[39], NT_113891.2:g.2226389TA[42], NT_167248.1:g.2007249TA[26], NT_167248.1:g.2007249TA[1], NT_167248.1:g.2007249TA[5], NT_167248.1:g.2007249TA[6], NT_167248.1:g.2007249TA[7], NT_167248.1:g.2007249TA[8], NT_167248.1:g.2007249TA[9], NT_167248.1:g.2007249TA[10], NT_167248.1:g.2007249TA[11], NT_167248.1:g.2007249TA[12], NT_167248.1:g.2007249TA[13], NT_167248.1:g.2007249TA[14], NT_167248.1:g.2007249TA[15], NT_167248.1:g.2007249TA[16], NT_167248.1:g.2007249TA[18], NT_167248.1:g.2007249TA[19], NT_167248.1:g.2007249TA[20], NT_167248.1:g.2007249TA[21], NT_167248.1:g.2007249TA[22], NT_167248.1:g.2007249TA[23], NT_167248.1:g.2007249TA[24], NT_167248.1:g.2007249TA[25], NT_167248.1:g.2007249TA[27], NT_167248.1:g.2007249TA[28], NT_167248.1:g.2007249TA[29], NT_167248.1:g.2007249TA[30], NT_167248.1:g.2007249TA[31], NT_167248.1:g.2007249TA[32], NT_167248.1:g.2007249TA[33], NT_167248.1:g.2007249TA[34], NT_167248.1:g.2007249TA[35], NT_167248.1:g.2007249TA[39], NT_167248.1:g.2007249TA[42], NT_167249.1:g.2046637TA[26], NT_167249.1:g.2046637TA[1], NT_167249.1:g.2046637TA[5], NT_167249.1:g.2046637TA[6], NT_167249.1:g.2046637TA[7], NT_167249.1:g.2046637TA[8], NT_167249.1:g.2046637TA[9], NT_167249.1:g.2046637TA[10], NT_167249.1:g.2046637TA[11], NT_167249.1:g.2046637TA[13], NT_167249.1:g.2046637TA[14], NT_167249.1:g.2046637TA[15], NT_167249.1:g.2046637TA[16], NT_167249.1:g.2046637TA[17], NT_167249.1:g.2046637TA[18], NT_167249.1:g.2046637TA[19], NT_167249.1:g.2046637TA[20], NT_167249.1:g.2046637TA[21], NT_167249.1:g.2046637TA[22], NT_167249.1:g.2046637TA[23], NT_167249.1:g.2046637TA[24], NT_167249.1:g.2046637TA[25], NT_167249.1:g.2046637TA[27], NT_167249.1:g.2046637TA[28], NT_167249.1:g.2046637TA[29], NT_167249.1:g.2046637TA[30], NT_167249.1:g.2046637TA[31], NT_167249.1:g.2046637TA[32], NT_167249.1:g.2046637TA[33], NT_167249.1:g.2046637TA[34], NT_167249.1:g.2046637TA[35], NT_167249.1:g.2046637TA[39], NT_167249.1:g.2046637TA[42], NT_167246.1:g.2062414TA[26], NT_167246.1:g.2062414TA[1], NT_167246.1:g.2062414TA[5], NT_167246.1:g.2062414TA[6], NT_167246.1:g.2062414TA[7], NT_167246.1:g.2062414TA[8], NT_167246.1:g.2062414TA[9], NT_167246.1:g.2062414TA[10], NT_167246.1:g.2062414TA[11], NT_167246.1:g.2062414TA[12], NT_167246.1:g.2062414TA[13], NT_167246.1:g.2062414TA[14], NT_167246.1:g.2062414TA[15], NT_167246.1:g.2062414TA[16], NT_167246.1:g.2062414TA[17], NT_167246.1:g.2062414TA[18], NT_167246.1:g.2062414TA[19], NT_167246.1:g.2062414TA[20], NT_167246.1:g.2062414TA[22], NT_167246.1:g.2062414TA[23], NT_167246.1:g.2062414TA[24], NT_167246.1:g.2062414TA[25], NT_167246.1:g.2062414TA[27], NT_167246.1:g.2062414TA[28], NT_167246.1:g.2062414TA[29], NT_167246.1:g.2062414TA[30], NT_167246.1:g.2062414TA[31], NT_167246.1:g.2062414TA[32], NT_167246.1:g.2062414TA[33], NT_167246.1:g.2062414TA[34], NT_167246.1:g.2062414TA[35], NT_167246.1:g.2062414TA[39], NT_167246.1:g.2062414TA[42]

        4.

        rs1491340240 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->GTATAT,GTATGTATAT,GTGTATAT,GTGTATGTATAT [Show Flanks]
          Chromosome:
          6:30746542 (GRCh38)
          6:30714320 (GRCh37)
          Canonical SPDI:
          NC_000006.12:30746542:TATAT:TATATGTATAT,NC_000006.12:30746542:TATAT:TATATGTATGTATAT,NC_000006.12:30746542:TATAT:TATATGTGTATAT,NC_000006.12:30746542:TATAT:TATATGTGTATGTATAT
          Gene:
          IER3 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATATGTATGTATAT=0./0 (ALFA)
          TATATG=0.01444/19 (GnomAD)
          HGVS:
          NC_000006.12:g.30746543_30746547TA[2]TGTATAT[1], NC_000006.12:g.30746543_30746547TA[2]TGTA[2]TAT[1], NC_000006.12:g.30746543_30746547TA[2]TG[2]TA[2]T[1], NC_000006.12:g.30746543_30746547TA[2]TG[2]TATGTATAT[1], NC_000006.11:g.30714320_30714324TA[2]TGTATAT[1], NC_000006.11:g.30714320_30714324TA[2]TGTA[2]TAT[1], NC_000006.11:g.30714320_30714324TA[2]TG[2]TA[2]T[1], NC_000006.11:g.30714320_30714324TA[2]TG[2]TATGTATAT[1], NT_167245.2:g.2002394_2002398TA[2]TGTATAT[1], NT_167245.2:g.2002394_2002398TA[2]TGTA[2]TAT[1], NT_167245.2:g.2002394_2002398TA[2]TG[2]TA[2]T[1], NT_167245.2:g.2002394_2002398TA[2]TG[2]TATGTATAT[1], NT_167245.1:g.2007979_2007983TA[2]TGTATAT[1], NT_167245.1:g.2007979_2007983TA[2]TGTA[2]TAT[1], NT_167245.1:g.2007979_2007983TA[2]TG[2]TA[2]T[1], NT_167245.1:g.2007979_2007983TA[2]TG[2]TATGTATAT[1]

          5.

          rs1491273700 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GT [Show Flanks]
            Chromosome:
            6:30763349 (GRCh38)
            6:30731127 (GRCh37)
            Canonical SPDI:
            NC_000006.12:30763349:T:TGT
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TGT=0./0 (ALFA)
            TG=0.000004/1 (TOPMED)
            TG=0.000016/1 (GnomAD)
            HGVS:

            6.

            rs1491144295 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CATATA,CATATATA,CATATATATA,CATATATATATA,CATATATATATATA,CATATATATATATATA,CATATATATATATATATA [Show Flanks]
              Chromosome:
              6:30746541 (GRCh38)
              6:30714319 (GRCh37)
              Canonical SPDI:
              NC_000006.12:30746541:ATATA:ATATACATATA,NC_000006.12:30746541:ATATA:ATATACATATATA,NC_000006.12:30746541:ATATA:ATATACATATATATA,NC_000006.12:30746541:ATATA:ATATACATATATATATA,NC_000006.12:30746541:ATATA:ATATACATATATATATATA,NC_000006.12:30746541:ATATA:ATATACATATATATATATATA,NC_000006.12:30746541:ATATA:ATATACATATATATATATATATA
              Gene:
              IER3 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATACATATATA=0./0 (ALFA)
              ATATACAT=0.000004/1 (TOPMED)
              HGVS:
              NC_000006.12:g.30746542_30746546AT[2]ACATATA[1], NC_000006.12:g.30746542_30746546AT[2]ACATATATA[1], NC_000006.12:g.30746542_30746546AT[2]ACATATATATA[1], NC_000006.12:g.30746542_30746546AT[2]ACATATATATATA[1], NC_000006.12:g.30746542_30746546AT[2]ACATATATATATATA[1], NC_000006.12:g.30746542_30746546AT[2]ACATATATATATATATA[1], NC_000006.12:g.30746542_30746546AT[2]ACATATATATATATATATA[1], NC_000006.11:g.30714319_30714323AT[2]ACATATA[1], NC_000006.11:g.30714319_30714323AT[2]ACATATATA[1], NC_000006.11:g.30714319_30714323AT[2]ACATATATATA[1], NC_000006.11:g.30714319_30714323AT[2]ACATATATATATA[1], NC_000006.11:g.30714319_30714323AT[2]ACATATATATATATA[1], NC_000006.11:g.30714319_30714323AT[2]ACATATATATATATATA[1], NC_000006.11:g.30714319_30714323AT[2]ACATATATATATATATATA[1], NT_167245.2:g.2002393_2002397AT[2]ACATATA[1], NT_167245.2:g.2002393_2002397AT[2]ACATATATA[1], NT_167245.2:g.2002393_2002397AT[2]ACATATATATA[1], NT_167245.2:g.2002393_2002397AT[2]ACATATATATATA[1], NT_167245.2:g.2002393_2002397AT[2]ACATATATATATATA[1], NT_167245.2:g.2002393_2002397AT[2]ACATATATATATATATA[1], NT_167245.2:g.2002393_2002397AT[2]ACATATATATATATATATA[1], NT_167245.1:g.2007978_2007982AT[2]ACATATA[1], NT_167245.1:g.2007978_2007982AT[2]ACATATATA[1], NT_167245.1:g.2007978_2007982AT[2]ACATATATATA[1], NT_167245.1:g.2007978_2007982AT[2]ACATATATATATA[1], NT_167245.1:g.2007978_2007982AT[2]ACATATATATATATA[1], NT_167245.1:g.2007978_2007982AT[2]ACATATATATATATATA[1], NT_167245.1:g.2007978_2007982AT[2]ACATATATATATATATATA[1]

              7.

              rs1491107258 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AA>- [Show Flanks]
                Chromosome:
                6:30746541 (GRCh38)
                6:30714318 (GRCh37)
                Canonical SPDI:
                NC_000006.12:30746540:AA:
                Gene:
                IER3 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0.00059/7 (ALFA)
                -=0.00092/59 (GnomAD)
                -=0.00099/17 (TOMMO)
                HGVS:

                8.

                rs1491026272 has merged into rs28994672 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,T,TTT [Show Flanks]
                  Chromosome:
                  6:30786637 (GRCh38)
                  6:30754414 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:30786634:TTTT:TT,NC_000006.12:30786634:TTTT:TTT,NC_000006.12:30786634:TTTT:TTTTT
                  Gene:
                  HCG20 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTT=0.138423/1338 (ALFA)
                  T=0.2548/982 (ALSPAC)
                  T=0.268339/995 (TWINSUK)
                  T=0.300357/1345 (Estonian)
                  T=0.301667/181 (NorthernSweden)
                  -=0.335586/5624 (TOMMO)
                  T=0.35/14 (GENOME_DK)
                  T=0.381159/100889 (TOPMED)
                  T=0.469394/2351 (1000Genomes)
                  HGVS:
                  NC_000006.12:g.30786637_30786638del, NC_000006.12:g.30786638del, NC_000006.12:g.30786638dup, NC_000006.11:g.30754414_30754415del, NC_000006.11:g.30754415del, NC_000006.11:g.30754415dup, NT_113891.3:g.2266349_2266350del, NT_113891.3:g.2266350del, NT_113891.3:g.2266350dup, NT_113891.2:g.2266455_2266456del, NT_113891.2:g.2266456del, NT_113891.2:g.2266456dup, NT_167248.2:g.2041720_2041721del, NT_167248.2:g.2041721del, NT_167248.2:g.2041721dup, NT_167248.1:g.2047316_2047317del, NT_167248.1:g.2047317del, NT_167248.1:g.2047317dup, NT_167245.2:g.2042613_2042614del, NT_167245.2:g.2042614del, NT_167245.2:g.2042614dup, NT_167245.1:g.2048198_2048199del, NT_167245.1:g.2048199del, NT_167245.1:g.2048199dup, NT_167246.2:g.2096879_2096880del, NT_167246.2:g.2096880del, NT_167246.2:g.2096880dup, NT_167246.1:g.2102499_2102500del, NT_167246.1:g.2102500del, NT_167246.1:g.2102500dup

                  9.

                  rs1490897292 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:30755262 (GRCh38)
                    6:30723039 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:30755261:C:T
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000014/2 (GnomAD)
                    T=0.000023/6 (TOPMED)
                    HGVS:

                    10.

                    rs1490822027 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:30791562 (GRCh38)
                      6:30759339 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:30791561:C:T
                      Gene:
                      HCG20 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000142/2 (ALFA)
                      T=0.000021/3 (GnomAD)
                      HGVS:

                      11.

                      rs1490791827 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:30783564 (GRCh38)
                        6:30751341 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:30783563:C:T
                        Gene:
                        HCG20 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1490787852 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          6:30773724 (GRCh38)
                          6:30741501 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:30773723:G:T
                          Gene:
                          HCG20 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000011/3 (TOPMED)
                          HGVS:

                          13.

                          rs1490729215 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            6:30792560 (GRCh38)
                            6:30760337 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:30792559:A:C
                            Gene:
                            HCG20 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490550989 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              6:30765613 (GRCh38)
                              6:30733390 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:30765612:G:T
                              Gene:
                              HCG20 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_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:

                              15.

                              rs1490549005 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                6:30747585 (GRCh38)
                                6:30715362 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:30747584:A:C
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1490410357 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  6:30765059 (GRCh38)
                                  6:30732836 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:30765058:G:A,NC_000006.12:30765058:G:C
                                  Gene:
                                  HCG20 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  C=0.000425/7 (TOMMO)
                                  HGVS:

                                  17.

                                  rs1490348118 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:30775561 (GRCh38)
                                    6:30743338 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:30775560:G:A
                                    Gene:
                                    HCG20 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000029/4 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490320549 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:30758102 (GRCh38)
                                      6:30725879 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:30758101:G:A
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490299749 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:30782078 (GRCh38)
                                        6:30749855 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:30782077:G:A
                                        Gene:
                                        HCG20 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490200170 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:30776482 (GRCh38)
                                          6:30744259 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:30776481:G:A
                                          Gene:
                                          HCG20 (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:

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