rs7412
rs7412 is a coding variant in APOE (c.526C>T, p.Arg176Cys — commonly cited as Arg158Cys using mature-protein numbering) that, together with rs429358, defines the APOE epsilon2/epsilon3/epsilon4 alleles. The cysteine substitution disrupts a salt bridge in the LDL-receptor-binding domain, reducing the protein's binding affinity for the LDL receptor. In this dataset it is paired with rs429358 to determine APOE genotype (e2/e3/e4), which is the strongest common genetic modifier of late-onset Alzheimer's disease risk — the rs7412-T (epsilon2) allele is associated with lower risk relative to epsilon3/epsilon4 backgrounds.
Traits rs7412 reads
Gene
Reference databases
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