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. 2018 May 15;10:136. doi: 10.3389/fnagi.2018.00136

Table 2.

Variants in genes known to be involved in Parkinson’s disease (PD) pathogenesis.

Gene dbSNP141 RS ID Amino acid change MAF (EXAC) REVEL score CADD score Association with PD Reference
GBA rs2230288 NM_001171811 E365K 0.0098 0.595 17.33 Risk factor Benitez et al. (2016)
GBA rs75548401 NM_001171811 T408M 0.0066 0.731 22.2 Risk factor Benitez et al. (2016)
LRRK2 rs34594498 A419V 0.0005 0.175 24.3 Risk factor Ross et al. (2011) and
Li et al. (2015)

Note: MAF, minor allele frequency.