Skip to main content
. Author manuscript; available in PMC: 2018 Feb 14.
Published in final edited form as: Parkinsonism Relat Disord. 2017 Sep 29;45:39–43. doi: 10.1016/j.parkreldis.2017.09.021

Table 4.

Rare variants in exome sequences of LRRK2 and SMPD1.

Gene Position Ref Alt dbSNP Amino acid change PredictSNP Patients with variant (n) Finnish alleles in ExAC
(n)
Effect Accuracy (%) All With variant
Variants not present in controls
SMPD1 6413367 G A n.a. p.E358K N 63 1 6558 0
SMPD1 6415566 G A rs113467489 p.R542Q D 65 1 6614 0
LRRK2 40693018 G T n.a. p.C1152F N 75 1 n.d. n.d.
LRRK2 40713842 C T rs201637880 p.S1627L N 83 1 n.d. n.d.
LRRK2 40713845 G C rs33949390 p.R1628P D 72 2 6610 0

Ref, reference variant; Alt, alternative variant; dbSNP, reference SNP ID; n.a., not available; N, neutral; D, deleterious; n.d., not detected; ExAC, Exome Aggregation Consortium.