rs34637584
rs34637584 encodes the LRRK2 p.G2019S missense variant, a glycine-to-serine substitution at codon 2019 in the kinase domain of leucine-rich repeat kinase 2. The substitution increases LRRK2 kinase activity, a gain-of-function effect, and it is the most common known genetic cause of both familial and sporadic Parkinson's disease, though penetrance is incomplete and rises with age. Carrier frequency varies widely by ancestry, reaching a substantially higher share of Parkinson's cases in North African Berber and Ashkenazi Jewish populations compared with roughly 1% of European-ancestry Parkinson's cases.
Traits rs34637584 reads
Gene
Reference databases
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