|| somewhat higher risk for Alzheimers
|| ~2x higher risk for Alzheimer's disease
, also known as c.5570+5G>C, is one of several loss-of-function ABCA7
mutations associated with Alzheimer's disease
initially in Icelanders, and then replicated in other populations.[PMID 25807283
Carriers of one rare rs200538373(C) allele are at roughly twice the risk for developing late-onset Alzheimer's disease compared to people having the most common genotype (G;G); the odds ratio is 1.91, p=3.8 × 10e−6.[PMID 25807283]
[PMID 28655137] Alzheimer's Disease Genetics and ABCA7 Splicing.