rs429358
rs429358 is a T>C missense variant in APOE that changes cysteine to arginine at amino-acid position 112 of the mature apolipoprotein E protein (legacy Cys112Arg nomenclature). Combined with the rs7412 variant at position 158, the rs429358-C / rs7412-C haplotype defines the APOE ε4 allele, which alters ApoE's lipid- and receptor-binding behavior and is the strongest common genetic risk factor for late-onset Alzheimer's disease, though most carriers never develop the disease. It is one of two markers (with rs7412) used to determine APOE ε2/ε3/ε4 genotype for late-onset Alzheimer's risk context.
Traits rs429358 reads
Gene
Reference databases
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