rs2066847
rs2066847 is the NOD2 Leu1007fsinsC frameshift variant (p.Leu1007fsX1008), a single-cytosine insertion in exon 11 that truncates the NOD2 protein and removes part of the leucine-rich repeat domain used to sense bacterial muramyl dipeptide. It is generally considered the strongest of the three classic NOD2 Crohn's disease risk variants, with homozygous carriers showing a markedly higher rate of aggressive, penetrating or stricturing disease. It is a key contributor to inflammatory bowel disease genetic risk.
Traits rs2066847 reads
Gene
Reference databases
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