Annotation Detail

Information
Associated Genes
IKBKB
Associated Variants
MBL2 p.Gly54Asp (p.G54D) ( ENST00000674931.1, ENST00000373968.3, ENST00000675947.1 )
NFKBIB c.619+474C>T ( ENST00000313582.6, ENST00000392079.7, ENST00000572515.5 )
CTLA4 c.*1148+236G>A
NC_000004.12:g.73740307A>T
rs833058
IKBKB c.-18-96A>G ( ENST00000518983.1, ENST00000520810.6, ENST00000520835.7 )
IKBKB c.-18-96A>T ( ENST00000518983.1, ENST00000520810.6, ENST00000520835.7 )
MBL2 p.Gly54Asp (p.G54D) ( ENST00000373968.3, ENST00000674931.1, ENST00000675947.1 )
NFKBIB c.619+474C>T ( ENST00000313582.6, ENST00000392079.7, ENST00000572515.5 )
CTLA4 c.*1148+236G>A
NC_000004.12:g.73740307A>T
rs833058
IKBKB c.-18-96A>G ( ENST00000518983.1, ENST00000520810.6, ENST00000520835.7 )
IKBKB c.-18-96A>T ( ENST00000518983.1, ENST00000520810.6, ENST00000520835.7 )
Associated Disease
Wheezing
Source Database
DisGeNET
Description
IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a significantly increased risk of developing wheezing (p = 0.02, p = 0.03, p = 0.05 and p = 0.0018), whereas CTLA4-rs3087243AG and NFKBIB-rs3136641TT were associated with a significantly reduced risk (p = 0.05 and p = 0.04).
Pubmed
25326706
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs