Table 3 Reported samples and frequencies of nominated potentially protective LRRK2 rare variants

From: LRRK2 rare-variant per-domain genetic burden in Parkinson’s Disease: association confined to the kinase domain

Cohorts

McGill University

Columbia University

Sheba

Pavlov and Human Brain

UKBB

AMP-PD

gnomAD v4.1 NFE

Variant

Cases N, (MAF)

Controls (MAF)

Cases N, (MAF)

Controls (MAF)

Cases N, (MAF)

Controls (MAF)

Cases N, (MAF)

Controls (MAF)

Cases N, (MAF)

Controls (MAF)

Cases N, (MAF)

Controls (MAF)

MAF

p.R793M

0

9 (0.001839)

1 (0.0003984)

0

-

-

0

1 (0.001553)

-

-

0

2 (0.0003233)

0.0008

p.Q1353K

0

8 (0.001635)

-

-

-

-

-

-

-

-

1 (0.0002547)

2 (0.0003233)

0.0001

  1. N number of samples, MAF minor allele frequency, UKBB United Kingdom Biobank, AMP-PD Accelerating Medicines Partnership–Parkinson Disease, gnomAD the genome aggregation database, NFE Non-Finnish European
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