Annotation Detail

Information
Associated Genes
NFKBIA
Associated Variants
NFKBIA c.636+17C>T ( ENST00000216797.10, ENST00000557389.1, ENST00000697961.1, ENST00000557140.5, ENST00000697962.1 )
TLR3 p.Leu412Val (p.L412V) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
TLR3 p.Leu412Phe (p.L412F) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
NC_000004.12:g.73740307A>T
VEGFA c.659-111C>A ( ENST00000230480.10, ENST00000324450.11, ENST00000372055.9, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000413642.8, ENST00000417285.7, ENST00000425836.9, ENST00000457104.6, ENST00000482630.7, ENST00000518689.5, ENST00000518824.5, ENST00000520948.5, ENST00000523125.5, ENST00000523873.5, ENST00000523950.5, ENST00000672860.3 )
NFKBIA c.636+17C>T ( ENST00000216797.10, ENST00000557140.5, ENST00000557389.1, ENST00000697961.1, ENST00000697962.1 )
TLR3 p.Leu412Val (p.L412V) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
TLR3 p.Leu412Phe (p.L412F) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
NC_000004.12:g.73740307A>T
VEGFA c.659-111C>A ( ENST00000230480.10, ENST00000324450.11, ENST00000372055.9, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000413642.8, ENST00000417285.7, ENST00000425836.9, ENST00000457104.6, ENST00000482630.7, ENST00000518689.5, ENST00000518824.5, ENST00000520948.5, ENST00000523125.5, ENST00000523873.5, ENST00000523950.5, ENST00000672860.3 )
Associated Disease
Wheezing
Source Database
DisGeNET
Description
IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increased risk of developing recurrent wheezing (p = 0.04, p = 0.04 and p = 0.03), whereas TLR3-rs3775291TC was associated with a significantly reduced risk (p = 0.03).
Pubmed
25326706
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs