rs2066844
rs2066844 is the NOD2 Arg702Trp (R702W) missense variant, one of three principal NOD2 coding variants (with rs2066845/Gly908Arg and rs2066847/Leu1007fsinsC) that are the strongest known single-gene risk factors for Crohn's disease. The variant lies in the leucine-rich repeat region NOD2 normally uses to sense bacterial muramyl dipeptide, impairing this innate-immune recognition function. It contributes to inflammatory bowel disease genetic risk alongside IL23R and ATG16L1 variants.
Traits rs2066844 reads
Gene
Reference databases
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