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Table 7 Individuals carrying two rare variants

From: Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease

Individual Ethnicity AAO PD FAM HISTORY Gender Age at draw rs# Variant in GBA rs# Second Hit Both genes
PD Patient Caucasian 56 NO F 66 rs71653622 A179T rs2230288 E365K GBA and PARK7
Control Caucasian NA NO F 65 rs421016 L483P rs1064651 D448H GBA and GBA
PD Patient Caucasian 46 NO F 57 rs76763715 N409S rs75548401 T408M GBA and GBA
PD Patient Caucasian 63 NO M 77 rs1141812 R83C rs33995883 N2081D GBA and LRRK2
PD Patient Caucasian 82 NO M 87 rs368060 A495P rs33995463 L119P GBA and LRRK2
Control Caucasian NA NO M 66 rs421016 L483P rs35658131 Y2189C GBA and LRRK2
PD Patient Caucasian 59 YES F 61 rs76763715 N409S rs33995883 N2081D GBA and LRRK2
PD Patient Caucasian 73 NO M 75 rs76763715 N409S rs33995883 N2081D GBA and LRRK2
Control Caucasian NA NO F 65 rs368060 A495P rs34424986 R275W GBA and PARK2
PD Patient Caucasian 44 NO M 50 rs76763715 N409S rs45478900 G411C GBA and PINK1