Annotation Detail

Information
Associated Genes
TLR7
Associated Variants
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 )
TLR7 p.Gln11Pro (p.Q11P) ( ENST00000380659.4 )
TLR7 p.Gln11Leu (p.Q11L) ( ENST00000380659.4 )
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 )
TLR7 p.Gln11Pro (p.Q11P) ( ENST00000380659.4 )
TLR7 p.Gln11Leu (p.Q11L) ( ENST00000380659.4 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD in one group (P = 0.01 and P = 0.02, respectively) before correction for multiple testing.
Pubmed
18385087
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2008
Drugs