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1.

rs1491570116 has merged into rs36155238 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    6:78940558 (GRCh38)
    6:79650275 (GRCh37)
    Canonical SPDI:
    NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:78940548:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    PHIP (Varview), IRAK1BP1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0./0 (ALFA)
    -=0.1/4 (GENOME_DK)
    HGVS:
    NC_000006.12:g.78940558_78940571del, NC_000006.12:g.78940559_78940571del, NC_000006.12:g.78940560_78940571del, NC_000006.12:g.78940561_78940571del, NC_000006.12:g.78940562_78940571del, NC_000006.12:g.78940563_78940571del, NC_000006.12:g.78940564_78940571del, NC_000006.12:g.78940565_78940571del, NC_000006.12:g.78940566_78940571del, NC_000006.12:g.78940567_78940571del, NC_000006.12:g.78940568_78940571del, NC_000006.12:g.78940569_78940571del, NC_000006.12:g.78940570_78940571del, NC_000006.12:g.78940571del, NC_000006.12:g.78940571dup, NC_000006.12:g.78940570_78940571dup, NC_000006.12:g.78940569_78940571dup, NC_000006.12:g.78940568_78940571dup, NC_000006.12:g.78940567_78940571dup, NC_000006.12:g.78940566_78940571dup, NC_000006.12:g.78940565_78940571dup, NC_000006.12:g.78940564_78940571dup, NC_000006.12:g.78940563_78940571dup, NC_000006.12:g.78940562_78940571dup, NC_000006.12:g.78940561_78940571dup, NC_000006.12:g.78940560_78940571dup, NC_000006.12:g.78940559_78940571dup, NC_000006.12:g.78940556_78940571dup, NC_000006.11:g.79650275_79650288del, NC_000006.11:g.79650276_79650288del, NC_000006.11:g.79650277_79650288del, NC_000006.11:g.79650278_79650288del, NC_000006.11:g.79650279_79650288del, NC_000006.11:g.79650280_79650288del, NC_000006.11:g.79650281_79650288del, NC_000006.11:g.79650282_79650288del, NC_000006.11:g.79650283_79650288del, NC_000006.11:g.79650284_79650288del, NC_000006.11:g.79650285_79650288del, NC_000006.11:g.79650286_79650288del, NC_000006.11:g.79650287_79650288del, NC_000006.11:g.79650288del, NC_000006.11:g.79650288dup, NC_000006.11:g.79650287_79650288dup, NC_000006.11:g.79650286_79650288dup, NC_000006.11:g.79650285_79650288dup, NC_000006.11:g.79650284_79650288dup, NC_000006.11:g.79650283_79650288dup, NC_000006.11:g.79650282_79650288dup, NC_000006.11:g.79650281_79650288dup, NC_000006.11:g.79650280_79650288dup, NC_000006.11:g.79650279_79650288dup, NC_000006.11:g.79650278_79650288dup, NC_000006.11:g.79650277_79650288dup, NC_000006.11:g.79650276_79650288dup, NC_000006.11:g.79650273_79650288dup, NG_051932.1:g.142737_142750del, NG_051932.1:g.142738_142750del, NG_051932.1:g.142739_142750del, NG_051932.1:g.142740_142750del, NG_051932.1:g.142741_142750del, NG_051932.1:g.142742_142750del, NG_051932.1:g.142743_142750del, NG_051932.1:g.142744_142750del, NG_051932.1:g.142745_142750del, NG_051932.1:g.142746_142750del, NG_051932.1:g.142747_142750del, NG_051932.1:g.142748_142750del, NG_051932.1:g.142749_142750del, NG_051932.1:g.142750del, NG_051932.1:g.142750dup, NG_051932.1:g.142749_142750dup, NG_051932.1:g.142748_142750dup, NG_051932.1:g.142747_142750dup, NG_051932.1:g.142746_142750dup, NG_051932.1:g.142745_142750dup, NG_051932.1:g.142744_142750dup, NG_051932.1:g.142743_142750dup, NG_051932.1:g.142742_142750dup, NG_051932.1:g.142741_142750dup, NG_051932.1:g.142740_142750dup, NG_051932.1:g.142739_142750dup, NG_051932.1:g.142738_142750dup, NG_051932.1:g.142735_142750dup, NM_017934.7:c.*131_*144del, NM_017934.7:c.*132_*144del, NM_017934.7:c.*133_*144del, NM_017934.7:c.*134_*144del, NM_017934.7:c.*135_*144del, NM_017934.7:c.*136_*144del, NM_017934.7:c.*137_*144del, NM_017934.7:c.*138_*144del, NM_017934.7:c.*139_*144del, NM_017934.7:c.*140_*144del, NM_017934.7:c.*141_*144del, NM_017934.7:c.*142_*144del, NM_017934.7:c.*143_*144del, NM_017934.7:c.*144del, NM_017934.7:c.*144dup, NM_017934.7:c.*143_*144dup, NM_017934.7:c.*142_*144dup, NM_017934.7:c.*141_*144dup, NM_017934.7:c.*140_*144dup, NM_017934.7:c.*139_*144dup, NM_017934.7:c.*138_*144dup, NM_017934.7:c.*137_*144dup, NM_017934.7:c.*136_*144dup, NM_017934.7:c.*135_*144dup, NM_017934.7:c.*134_*144dup, NM_017934.7:c.*133_*144dup, NM_017934.7:c.*132_*144dup, NM_017934.7:c.*129_*144dup, NM_017934.6:c.*131_*144del, NM_017934.6:c.*132_*144del, NM_017934.6:c.*133_*144del, NM_017934.6:c.*134_*144del, NM_017934.6:c.*135_*144del, NM_017934.6:c.*136_*144del, NM_017934.6:c.*137_*144del, NM_017934.6:c.*138_*144del, NM_017934.6:c.*139_*144del, NM_017934.6:c.*140_*144del, NM_017934.6:c.*141_*144del, NM_017934.6:c.*142_*144del, NM_017934.6:c.*143_*144del, NM_017934.6:c.*144del, NM_017934.6:c.*144dup, NM_017934.6:c.*143_*144dup, NM_017934.6:c.*142_*144dup, NM_017934.6:c.*141_*144dup, NM_017934.6:c.*140_*144dup, NM_017934.6:c.*139_*144dup, NM_017934.6:c.*138_*144dup, NM_017934.6:c.*137_*144dup, NM_017934.6:c.*136_*144dup, NM_017934.6:c.*135_*144dup, NM_017934.6:c.*134_*144dup, NM_017934.6:c.*133_*144dup, NM_017934.6:c.*132_*144dup, NM_017934.6:c.*129_*144dup, NM_017934.5:c.*131_*144del, NM_017934.5:c.*132_*144del, NM_017934.5:c.*133_*144del, NM_017934.5:c.*134_*144del, NM_017934.5:c.*135_*144del, NM_017934.5:c.*136_*144del, NM_017934.5:c.*137_*144del, NM_017934.5:c.*138_*144del, NM_017934.5:c.*139_*144del, NM_017934.5:c.*140_*144del, NM_017934.5:c.*141_*144del, NM_017934.5:c.*142_*144del, NM_017934.5:c.*143_*144del, NM_017934.5:c.*144del, NM_017934.5:c.*144dup, NM_017934.5:c.*143_*144dup, NM_017934.5:c.*142_*144dup, NM_017934.5:c.*141_*144dup, NM_017934.5:c.*140_*144dup, NM_017934.5:c.*139_*144dup, NM_017934.5:c.*138_*144dup, NM_017934.5:c.*137_*144dup, NM_017934.5:c.*136_*144dup, NM_017934.5:c.*135_*144dup, NM_017934.5:c.*134_*144dup, NM_017934.5:c.*133_*144dup, NM_017934.5:c.*132_*144dup, NM_017934.5:c.*129_*144dup, XM_005248729.6:c.*131_*144del, XM_005248729.6:c.*132_*144del, XM_005248729.6:c.*133_*144del, XM_005248729.6:c.*134_*144del, XM_005248729.6:c.*135_*144del, XM_005248729.6:c.*136_*144del, XM_005248729.6:c.*137_*144del, XM_005248729.6:c.*138_*144del, XM_005248729.6:c.*139_*144del, XM_005248729.6:c.*140_*144del, XM_005248729.6:c.*141_*144del, XM_005248729.6:c.*142_*144del, XM_005248729.6:c.*143_*144del, XM_005248729.6:c.*144del, XM_005248729.6:c.*144dup, XM_005248729.6:c.*143_*144dup, XM_005248729.6:c.*142_*144dup, XM_005248729.6:c.*141_*144dup, XM_005248729.6:c.*140_*144dup, XM_005248729.6:c.*139_*144dup, XM_005248729.6:c.*138_*144dup, XM_005248729.6:c.*137_*144dup, XM_005248729.6:c.*136_*144dup, XM_005248729.6:c.*135_*144dup, XM_005248729.6:c.*134_*144dup, XM_005248729.6:c.*133_*144dup, XM_005248729.6:c.*132_*144dup, XM_005248729.6:c.*129_*144dup, XM_005248729.5:c.*137_*140dup, XM_005248729.5:c.*131_*140del, XM_005248729.5:c.*132_*140del, XM_005248729.5:c.*133_*140del, XM_005248729.5:c.*134_*140del, XM_005248729.5:c.*135_*140del, XM_005248729.5:c.*136_*140del, XM_005248729.5:c.*137_*140del, XM_005248729.5:c.*138_*140del, XM_005248729.5:c.*139_*140del, XM_005248729.5:c.*140del, XM_005248729.5:c.*140dup, XM_005248729.5:c.*139_*140dup, XM_005248729.5:c.*138_*140dup, XM_005248729.5:c.*136_*140dup, XM_005248729.5:c.*135_*140dup, XM_005248729.5:c.*134_*140dup, XM_005248729.5:c.*133_*140dup, XM_005248729.5:c.*132_*140dup, XM_005248729.5:c.*131_*140dup, XM_005248729.5:c.*130_*140dup, XM_005248729.5:c.*129_*140dup, XM_005248729.5:c.*128_*140dup, XM_005248729.5:c.*127_*140dup, XM_005248729.5:c.*126_*140dup, XM_005248729.5:c.*125_*140dup, XM_005248729.5:c.*124_*140dup, XM_005248729.5:c.*140_*141insAAAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAA, XM_005248729.4:c.*131_*132del, XM_005248729.4:c.*132del, XM_005248729.4:c.*132dup, XM_005248729.4:c.*131_*132dup, XM_005248729.4:c.*130_*132dup, XM_005248729.4:c.*129_*132dup, XM_005248729.4:c.*128_*132dup, XM_005248729.4:c.*127_*132dup, XM_005248729.4:c.*126_*132dup, XM_005248729.4:c.*125_*132dup, XM_005248729.4:c.*124_*132dup, XM_005248729.4:c.*123_*132dup, XM_005248729.4:c.*122_*132dup, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAAAAA, XM_005248729.4:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_005248729.3:c.*131_*144del, XM_005248729.3:c.*132_*144del, XM_005248729.3:c.*133_*144del, XM_005248729.3:c.*134_*144del, XM_005248729.3:c.*135_*144del, XM_005248729.3:c.*136_*144del, XM_005248729.3:c.*137_*144del, XM_005248729.3:c.*138_*144del, XM_005248729.3:c.*139_*144del, XM_005248729.3:c.*140_*144del, XM_005248729.3:c.*141_*144del, XM_005248729.3:c.*142_*144del, XM_005248729.3:c.*143_*144del, XM_005248729.3:c.*144del, XM_005248729.3:c.*144dup, XM_005248729.3:c.*143_*144dup, XM_005248729.3:c.*142_*144dup, XM_005248729.3:c.*141_*144dup, XM_005248729.3:c.*140_*144dup, XM_005248729.3:c.*139_*144dup, XM_005248729.3:c.*138_*144dup, XM_005248729.3:c.*137_*144dup, XM_005248729.3:c.*136_*144dup, XM_005248729.3:c.*135_*144dup, XM_005248729.3:c.*134_*144dup, XM_005248729.3:c.*133_*144dup, XM_005248729.3:c.*132_*144dup, XM_005248729.3:c.*129_*144dup, XM_005248729.2:c.*131_*144del, XM_005248729.2:c.*132_*144del, XM_005248729.2:c.*133_*144del, XM_005248729.2:c.*134_*144del, XM_005248729.2:c.*135_*144del, XM_005248729.2:c.*136_*144del, XM_005248729.2:c.*137_*144del, XM_005248729.2:c.*138_*144del, XM_005248729.2:c.*139_*144del, XM_005248729.2:c.*140_*144del, XM_005248729.2:c.*141_*144del, XM_005248729.2:c.*142_*144del, XM_005248729.2:c.*143_*144del, XM_005248729.2:c.*144del, XM_005248729.2:c.*144dup, XM_005248729.2:c.*143_*144dup, XM_005248729.2:c.*142_*144dup, XM_005248729.2:c.*141_*144dup, XM_005248729.2:c.*140_*144dup, XM_005248729.2:c.*139_*144dup, XM_005248729.2:c.*138_*144dup, XM_005248729.2:c.*137_*144dup, XM_005248729.2:c.*136_*144dup, XM_005248729.2:c.*135_*144dup, XM_005248729.2:c.*134_*144dup, XM_005248729.2:c.*133_*144dup, XM_005248729.2:c.*132_*144dup, XM_005248729.2:c.*129_*144dup, XM_005248729.1:c.*131_*144del, XM_005248729.1:c.*132_*144del, XM_005248729.1:c.*133_*144del, XM_005248729.1:c.*134_*144del, XM_005248729.1:c.*135_*144del, XM_005248729.1:c.*136_*144del, XM_005248729.1:c.*137_*144del, XM_005248729.1:c.*138_*144del, XM_005248729.1:c.*139_*144del, XM_005248729.1:c.*140_*144del, XM_005248729.1:c.*141_*144del, XM_005248729.1:c.*142_*144del, XM_005248729.1:c.*143_*144del, XM_005248729.1:c.*144del, XM_005248729.1:c.*144dup, XM_005248729.1:c.*143_*144dup, XM_005248729.1:c.*142_*144dup, XM_005248729.1:c.*141_*144dup, XM_005248729.1:c.*140_*144dup, XM_005248729.1:c.*139_*144dup, XM_005248729.1:c.*138_*144dup, XM_005248729.1:c.*137_*144dup, XM_005248729.1:c.*136_*144dup, XM_005248729.1:c.*135_*144dup, XM_005248729.1:c.*134_*144dup, XM_005248729.1:c.*133_*144dup, XM_005248729.1:c.*132_*144dup, XM_005248729.1:c.*129_*144dup, XM_011535918.4:c.*131_*144del, XM_011535918.4:c.*132_*144del, XM_011535918.4:c.*133_*144del, XM_011535918.4:c.*134_*144del, XM_011535918.4:c.*135_*144del, XM_011535918.4:c.*136_*144del, XM_011535918.4:c.*137_*144del, XM_011535918.4:c.*138_*144del, XM_011535918.4:c.*139_*144del, XM_011535918.4:c.*140_*144del, XM_011535918.4:c.*141_*144del, XM_011535918.4:c.*142_*144del, XM_011535918.4:c.*143_*144del, XM_011535918.4:c.*144del, XM_011535918.4:c.*144dup, XM_011535918.4:c.*143_*144dup, XM_011535918.4:c.*142_*144dup, XM_011535918.4:c.*141_*144dup, XM_011535918.4:c.*140_*144dup, XM_011535918.4:c.*139_*144dup, XM_011535918.4:c.*138_*144dup, XM_011535918.4:c.*137_*144dup, XM_011535918.4:c.*136_*144dup, XM_011535918.4:c.*135_*144dup, XM_011535918.4:c.*134_*144dup, XM_011535918.4:c.*133_*144dup, XM_011535918.4:c.*132_*144dup, XM_011535918.4:c.*129_*144dup, XM_011535918.3:c.*137_*140dup, XM_011535918.3:c.*131_*140del, XM_011535918.3:c.*132_*140del, XM_011535918.3:c.*133_*140del, XM_011535918.3:c.*134_*140del, XM_011535918.3:c.*135_*140del, XM_011535918.3:c.*136_*140del, XM_011535918.3:c.*137_*140del, XM_011535918.3:c.*138_*140del, XM_011535918.3:c.*139_*140del, XM_011535918.3:c.*140del, XM_011535918.3:c.*140dup, XM_011535918.3:c.*139_*140dup, XM_011535918.3:c.*138_*140dup, XM_011535918.3:c.*136_*140dup, XM_011535918.3:c.*135_*140dup, XM_011535918.3:c.*134_*140dup, XM_011535918.3:c.*133_*140dup, XM_011535918.3:c.*132_*140dup, XM_011535918.3:c.*131_*140dup, XM_011535918.3:c.*130_*140dup, XM_011535918.3:c.*129_*140dup, XM_011535918.3:c.*128_*140dup, XM_011535918.3:c.*127_*140dup, XM_011535918.3:c.*126_*140dup, XM_011535918.3:c.*125_*140dup, XM_011535918.3:c.*124_*140dup, XM_011535918.3:c.*140_*141insAAAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAA, XM_011535918.2:c.*131_*132del, XM_011535918.2:c.*132del, XM_011535918.2:c.*132dup, XM_011535918.2:c.*131_*132dup, XM_011535918.2:c.*130_*132dup, XM_011535918.2:c.*129_*132dup, XM_011535918.2:c.*128_*132dup, XM_011535918.2:c.*127_*132dup, XM_011535918.2:c.*126_*132dup, XM_011535918.2:c.*125_*132dup, XM_011535918.2:c.*124_*132dup, XM_011535918.2:c.*123_*132dup, XM_011535918.2:c.*122_*132dup, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAAAAA, XM_011535918.2:c.*132_*133insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, XM_011535918.1:c.*131_*144del, XM_011535918.1:c.*132_*144del, XM_011535918.1:c.*133_*144del, XM_011535918.1:c.*134_*144del, XM_011535918.1:c.*135_*144del, XM_011535918.1:c.*136_*144del, XM_011535918.1:c.*137_*144del, XM_011535918.1:c.*138_*144del, XM_011535918.1:c.*139_*144del, XM_011535918.1:c.*140_*144del, XM_011535918.1:c.*141_*144del, XM_011535918.1:c.*142_*144del, XM_011535918.1:c.*143_*144del, XM_011535918.1:c.*144del, XM_011535918.1:c.*144dup, XM_011535918.1:c.*143_*144dup, XM_011535918.1:c.*142_*144dup, XM_011535918.1:c.*141_*144dup, XM_011535918.1:c.*140_*144dup, XM_011535918.1:c.*139_*144dup, XM_011535918.1:c.*138_*144dup, XM_011535918.1:c.*137_*144dup, XM_011535918.1:c.*136_*144dup, XM_011535918.1:c.*135_*144dup, XM_011535918.1:c.*134_*144dup, XM_011535918.1:c.*133_*144dup, XM_011535918.1:c.*132_*144dup, XM_011535918.1:c.*129_*144dup

    2.

    rs1491524385 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      6:78918600 (GRCh38)
      6:79628317 (GRCh37)
      Canonical SPDI:
      NC_000006.12:78918599:AG:
      Gene:
      IRAK1BP1 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000014/2 (GnomAD)
      HGVS:

      3.

      rs1491455481 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->CAAA,TA,TAA,TAAA,TTA [Show Flanks]
        Chromosome:
        6:78943990 (GRCh38)
        6:79653708 (GRCh37)
        Canonical SPDI:
        NC_000006.12:78943990::CAAA,NC_000006.12:78943990::TA,NC_000006.12:78943990::TAA,NC_000006.12:78943990::TAAA,NC_000006.12:78943990::TTA
        Gene:
        PHIP (Varview), IRAK1BP1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TAA=0./0 (ALFA)
        TAA=0.002/10 (1000Genomes)
        HGVS:

        4.

        rs1491450888 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TA>- [Show Flanks]
          Chromosome:
          6:78943990 (GRCh38)
          6:79653707 (GRCh37)
          Canonical SPDI:
          NC_000006.12:78943989:TA:
          Gene:
          PHIP (Varview), IRAK1BP1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.00008/1 (ALFA)
          -=0.00013/6 (GnomAD)
          HGVS:

          5.

          rs1491434657 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->T [Show Flanks]
            Chromosome:
            6:78923255 (GRCh38)
            6:79632973 (GRCh37)
            Canonical SPDI:
            NC_000006.12:78923255::T
            Gene:
            IRAK1BP1 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:

            6.

            rs1491077974 has merged into rs1554186292 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TA>-,TATA,TATAAAATATACTATAGCTATATAGCTATAGTATATTATATATATATATATA,TATATA [Show Flanks]
              Chromosome:
              6:78865966 (GRCh38)
              6:79575683 (GRCh37)
              Canonical SPDI:
              NC_000006.12:78865952:ATATATATATATATA:ATATATATATATA,NC_000006.12:78865952:ATATATATATATATA:ATATATATATATATATA,NC_000006.12:78865952:ATATATATATATATA:ATATATATATATATATAAAATATACTATAGCTATATAGCTATAGTATATTATATATATATATATA,NC_000006.12:78865952:ATATATATATATATA:ATATATATATATATATATA
              Gene:
              IRAK1BP1 (Varview), LOC107986613 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATATATATATATATATA=0.00136/19 (ALFA)
              AT=0.00125/21 (TOMMO)
              AT=0.00224/4 (Korea1K)
              HGVS:

              7.

              rs1491020885 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                6:78944013 (GRCh38)
                6:79653730 (GRCh37)
                Canonical SPDI:
                NC_000006.12:78944012:AG:
                Gene:
                PHIP (Varview), IRAK1BP1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000022/3 (GnomAD)
                HGVS:

                8.

                rs1490999689 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:78932617 (GRCh38)
                  6:79642334 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:78932616:C:T
                  Gene:
                  IRAK1BP1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1490998883 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    6:78878761 (GRCh38)
                    6:79588478 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:78878760:T:G
                    Gene:
                    IRAK1BP1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1490975783 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      6:78867774 (GRCh38)
                      6:79577491 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:78867773:C:A
                      Gene:
                      IRAK1BP1 (Varview), LOC107986613 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      HGVS:

                      11.

                      rs1490900419 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        6:78917448 (GRCh38)
                        6:79627165 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:78917447:G:C
                        Gene:
                        IRAK1BP1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000021/3 (GnomAD)
                        HGVS:

                        12.

                        rs1490863099 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          6:78897983 (GRCh38)
                          6:79607700 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:78897982:T:A,NC_000006.12:78897982:T:C
                          Gene:
                          IRAK1BP1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1490862640 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:78923231 (GRCh38)
                            6:79632948 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:78923230:C:T
                            Gene:
                            IRAK1BP1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000396/6 (ALFA)
                            T=0.000057/8 (GnomAD)
                            T=0.00006/1 (TOMMO)
                            T=0.001339/6 (Estonian)
                            HGVS:

                            14.

                            rs1490857343 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:78924716 (GRCh38)
                              6:79634433 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:78924715:C:T
                              Gene:
                              IRAK1BP1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1490794100 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                6:78888608 (GRCh38)
                                6:79598325 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:78888607:C:G,NC_000006.12:78888607:C:T
                                Gene:
                                IRAK1BP1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490784637 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G,T [Show Flanks]
                                  Chromosome:
                                  6:78909701 (GRCh38)
                                  6:79619418 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:78909700:A:C,NC_000006.12:78909700:A:G,NC_000006.12:78909700:A:T
                                  Gene:
                                  IRAK1BP1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1490774852 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:78894642 (GRCh38)
                                    6:79604359 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:78894641:A:G
                                    Gene:
                                    IRAK1BP1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000019/5 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490754580 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:78964675 (GRCh38)
                                      6:79674392 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:78964674:T:C
                                      Gene:
                                      PHIP (Varview), IRAK1BP1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000026/7 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490729125 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:78964602 (GRCh38)
                                        6:79674319 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:78964601:C:T
                                        Gene:
                                        PHIP (Varview), IRAK1BP1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000036/5 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490719878 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          6:78943530 (GRCh38)
                                          6:79653247 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:78943529:T:C,NC_000006.12:78943529:T:G
                                          Gene:
                                          PHIP (Varview), IRAK1BP1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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