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It is considered a disease causing mutation because it is rarely found in healthy, elderly people without Parkinson's disease, and it has been found in both familial and sporadic types of the disease.

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Overall, the risk of Parkinson's disease for a person who inherits a rs34637584(A) allele is 28% at age 59, 51% at 69, and 74% at 79, according to the International LRRK2 Consortium.[PMID 18539534] This SNP has been associated with disease at varying frequencies in Asian ( [PMID 20186690] Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study.

[PMID 21850687] Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death.

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[PMID 15680457] A common LRRK2 mutation in idiopathic Parkinson's disease.

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This SNP is commonly referred to as the G2019S variant (or, mutation) based on the potential change from glycine (encoded by rs34637584(G) allele) to serine (encoded by the rs34637584(A) allele) at position 2019 of the LRRK2 protein.[PMID 15680456][PMID 15680455] Note: as of June 2016, we have noticed that this SNP is prone to being miscalled in Ancestry DNA V2.0 datasets.

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