Annotation Detail

Information
Associated Genes
IL4
Associated Variants
LUC7L c.807-146T>G ( ENST00000397783.5, ENST00000337351.8, ENST00000629543.2, ENST00000293872.13, ENST00000397780.5 )
IL4R p.Ser503Pro (p.S503P) ( ENST00000543915.6, ENST00000395762.7, ENST00000170630.6 )
ENSG00000266202 c.438+1937C>T
IL1A p.Ala114Ser (p.A114S) ( ENST00000263339.4 )
rs2243250
NC_000006.12:g.31575186G>A
CD40LG p.Leu50= (p.L50=) ( ENST00000370628.2, ENST00000370629.7, ENST00000695724.1, ENST00000695725.1 )
LUC7L c.807-146T>G ( ENST00000293872.13, ENST00000337351.8, ENST00000397780.5, ENST00000397783.5, ENST00000629543.2 )
IL4R p.Ser503Pro (p.S503P) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
ENSG00000266202 c.438+1937C>T
IL1A p.Ala114Ser (p.A114S) ( ENST00000263339.4 )
rs2243250
NC_000006.12:g.31575186G>A
CD40LG p.Leu50= (p.L50=) ( ENST00000370628.2, ENST00000370629.7, ENST00000695724.1, ENST00000695725.1 )
Associated Disease
malaria
Source Database
DisGeNET
Description
A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs1805015), NOS (rs8078340), CD40LG (rs1126535), and LUC7L (rs1211375) was significantly associated with the prevalence of malaria (POR: 1.822, 95% CI: 0.998-3.324).
Pubmed
26448013
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00997733591851466
Year of publication
2016
Drugs