Annotation Detail

Information
Associated Genes
TLR1
Associated Variants
TLR1 MUTATION
TLR1 MUTATION
SLC14A2 p.Leu411Phe (p.L411F) ( ENST00000255226.11, ENST00000586448.5 )
rs6682925 ( ENST00000697222.1, ENST00000371007.6 )
IL5RA c.-37T>C ( ENST00000256452.7, ENST00000311981.12, ENST00000383846.5, ENST00000418488.6, ENST00000430514.6, ENST00000438560.5, ENST00000446632.7, ENST00000456302.5 )
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 )
rs5743551
SLC14A2 p.Leu411Phe (p.L411F) ( ENST00000255226.11, ENST00000586448.5 )
rs6682925 ( ENST00000697222.1, ENST00000371007.6 )
IL5RA c.-37T>C ( ENST00000256452.7, ENST00000311981.12, ENST00000383846.5, ENST00000418488.6, ENST00000430514.6, ENST00000438560.5, ENST00000446632.7, ENST00000456302.5 )
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 )
rs5743551
Associated Disease
Non-small cell lung carcinoma
Source Database
DisGeNET
Description
Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic models and four of them were remained in the final predictive model after multivariate stepwise Cox regression, including IL-5R rs11713419 (5'-untranslated region, 5'-UTR) (P = 0.001), IL23R rs6682925 (5'-flanking region, 5'-FR) (P = 0.017), TLR1 rs5743551 (5'-FR) (P = 0.02) and TLR3 rs3775291 (Leu412Phe) (P = 0.01).
Pubmed
21412764
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2012
Drugs