Annotation Detail
Information
- Associated Genes
- TNF
- Associated Variants
-
rs1441585
IL4R p.Ile75Leu (p.I75L) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Ile75Val (p.I75V) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Ile75Phe (p.I75F) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
CTLA4 p.Thr17Ala (p.T17A) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
CTLA4 p.Thr17Ser (p.T17S) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
IL13 p.Gln144Arg (p.Q144R) ( ENST00000304506.7 )
rs2243250
CD14 c.-221-39T>C ( ENST00000498971.7, ENST00000512545.2, ENST00000519715.2 )
TNF c.-488G>A
IL13RA1 c.*81A>G ( ENST00000371666.8, ENST00000652600.1 )
rs1441585
IL4R p.Ile75Leu (p.I75L) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
IL4R p.Ile75Val (p.I75V) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
IL4R p.Ile75Phe (p.I75F) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
CTLA4 p.Thr17Ala (p.T17A) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
CTLA4 p.Thr17Ser (p.T17S) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
IL13 p.Gln144Arg (p.Q144R) ( ENST00000304506.7 )
rs2243250
CD14 c.-221-39T>C ( ENST00000498971.7, ENST00000512545.2, ENST00000519715.2 )
TNF c.-488G>A
IL13RA1 c.*81A>G ( ENST00000371666.8, ENST00000652600.1 ) - Associated Disease
- asthma
- Source Database
- DisGeNET
- Description
- To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide polymorphisms (SNPs) from eight candidate genes (IL-4 rs2243250, IL-4Rα rs1805010, IL-13 rs20541, IL-13Rα1 rs2495636, CD14 rs2569190, tumor necrosis factor-alpha (TNF-α) rs1800629, cytotoxic T lymphocyte-associated antigen (CTLA4) rs231775, FCER1B rs1441585) in children with asthma and to evaluate gene-gene interactions.
- Pubmed
- 22376040
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.265827974346731
- Year of publication
- 2012
Drugs