|(A;A)||2.2||0.44x decreased risk for dry age related macular degeneration|
|(A;G)||2.1||0.71x decreased risk for dry age related macular degeneration|
|(G;G)||2||common but higher risk of age related macular degeneration|
rs3775291 is a SNP in the TLR3 gene associated with an amino acid change in the corresponding protein. In the orientation as shown in dbSNP, the more common rs3775291(G) allele encodes a leucine while the rarer rs3775291(A) allele encodes a phenylalanine.
rs3775291 has been associated with one form of age related macular degeneration (ARMD), specifically, the form known as "dry" ARMD, also known as geographic atrophy. A study of 3 case-control groups of Americans of European descent, comprising about 900 ARMD patients in total, indicated that having one rs3775291(A) allele reduces the odds of having dry ARMD about 30%, and being a rs3775291(A;A) homozygote cuts your odds by more than half. Specifically, the odds ratio of having dry ARMD with one minor allele is 0.712 (CI: 0.50-1.0), and for two minor alleles, 0.437 ( CI: 0.227-0.839). This was highly significant for the pooled populations (p = 1.24x10eâ€“7) and also in each population independently(p = 0.002-0.005).[PMID 18753640]
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[PMID 24621100] A Polymorphism in Melanoma Differentiation-associated Gene 5 May Be a Risk Factor for Enterovirus 71 Infection
|Disease||Human immunodeficiency virus type 1 not specified|
|CLNDBN||Human immunodeficiency virus type 1, susceptibility to not specified|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
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