Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918304
rs121918304
FBXO7
0.010 GeneticVariation BEFREE FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family. 25169713

2014
dbSNP: rs1224426272
rs1224426272
CIT
0.010 GeneticVariation BEFREE Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study. 31229470

2019
dbSNP: rs1239756674
rs1239756674
MAOA
0.010 GeneticVariation BEFREE The purpose of this study was to determine the concentration of plasma norepinephrine (NE), epinephrine (E), and serotonin (5-HT) in two collections, after a 30-min supine (I) and 5-min upright position (II), and polymorphisms of genes, COMT (c.649G>A), MAO-A (c.1460C>T), and NET (c.1287G>A), in patients with Parkinson's disease (PD) and other degenerative parkinsonism and controls. 28418735

2017
dbSNP: rs12817488
rs12817488
CCDC62
0.010 GeneticVariation BEFREE Parkinson disease risk alleles in the MAPT (rs2942168; P = .0006) and CCDC62 (rs12817488; P = .004) loci were associated with global parkinsonism, and these associations remained after exclusion of patients with a PD diagnosis. 24514572

2014
dbSNP: rs1289324472
rs1289324472
GBA
0.020 GeneticVariation BEFREE GBA1 heterozygotes with non-N370S</span> mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations. 22968580

2013
dbSNP: rs1289324472
rs1289324472
GBA
0.020 GeneticVariation BEFREE Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. 27777137

2016
dbSNP: rs1290141855
rs1290141855
SLC6A2
0.010 GeneticVariation BEFREE The purpose of this study was to determine the concentration of plasma norepinephrine (NE), epinephrine (E), and serotonin (5-HT) in two collections, after a 30-min supine (I) and 5-min upright position (II), and polymorphisms of genes, COMT (c.649G>A), MAO-A (c.1460C>T), and NET (c.1287G>A), in patients with Parkinson's disease (PD) and other degenerative parkinsonism and controls. 28418735

2017
dbSNP: rs137852538
rs137852538
PGK1
0.010 GeneticVariation BEFREE To investigate the nigrostriatal system using 99mTc-TRODAT-1 SPECT binding and report the phenotype of three affected males with early onset levodopa responsive Parkinsonism harbouring the c.491 A > T/p.D164V pathogenic variant. 30975619

2019
dbSNP: rs139548132
rs139548132
WARS2 ; WARS2-AS1
0.010 GeneticVariation BEFREE Here, we report the case of a 17-year-old boy with compound heterozygous mutations in WARS2 (p.Trp13Gly, p.Ser228Trp) who presented with infantile-onset, Levodopa-responsive Parkinsonism at the age of 2 years. 29120065

2018
dbSNP: rs1417802320
rs1417802320
PARK7
0.010 GeneticVariation BEFREE The deleterious effect of each Parkinsonism-associated mutation on DJ-1 is dissected by analysis of engineered substitutions (M26L, A104V, and E163K/R145E) that partially alleviate each of the defects introduced by the A104T, E163K and M26I mutations. 18181649

2008
dbSNP: rs1426868527
rs1426868527
PINK1 ; MIR6084
0.010 GeneticVariation BEFREE The clinical phenotype comprised of asymmetrical onset, slowly progressive Parkinsonism with levodopa induced motor restlessness in a patient with the novel mutation (c.313 A > T, p. Ile105Phe) while subjects with c.293 G > A, p.Arg98Gln had early onset levodopa responsive symmetrical Parkinsonism. 27592010

2016
dbSNP: rs143624519
rs143624519
MAPT
0.010 GeneticVariation BEFREE We identified a rare p.A152T variant in MAPT exon 7 in two (of eight) patients with clinical presentation of parkinsonism and postmortem finding of neurofibrillary tangle pathology. 22595371

2012
dbSNP: rs1555507479
rs1555507479
GNAO1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555727942
rs1555727942
NOTCH3 ; MIR6795
0.010 GeneticVariation BEFREE We studied two patients, a pair of monozygotic twins, carrying the R1006C mutation of the NOTCH3 gene and affected by a parkinsonian syndrome. 26850715

2016
dbSNP: rs188286943
rs188286943
VPS35
0.010 GeneticVariation BEFREE We recently linked a mutation in VPS35 (p.D620N) to familial parkinsonism. 25416282

2015
dbSNP: rs201106962
rs201106962
SNCA
0.010 GeneticVariation BEFREE Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia. 23457019

2013
dbSNP: rs2032582
rs2032582
ABCB1
0.010 GeneticVariation BEFREE G2677T/A and C3435T genotypes were not associated to psychopathological symptoms, efficacy of treatment and risk for parkinsonism. 20060871

2010
dbSNP: rs2230288
rs2230288
GBA
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs2421947
rs2421947
DNM3 ; DNM3-IT1
0.010 GeneticVariation BEFREE We found that DNM3 rs2421947 was a haplotype tag for which the median onset of LRRK2 parkinsonism in GG carriers was 12·5 years younger than that of CC carriers (Arab-Berber cohort, hazard ratio [HR] 1·89, 95% CI 1·20-2·98). 27692902

2016
dbSNP: rs242557
rs242557
MAPT
0.010 GeneticVariation BEFREE The rs242557 polymorphism could act modulating the phenotypic expressivity of the H1 risk on these parkinsonisms. 19879020

2011
dbSNP: rs267604921
rs267604921
MAPT
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648

2016
dbSNP: rs28940285
rs28940285
PINK1 ; PINK1-AS
0.010 GeneticVariation BEFREE We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1. 17055324

2007
dbSNP: rs2942168
rs2942168
LINC02210 ; LINC02210-CRHR1
0.010 GeneticVariation BEFREE Parkinson disease risk alleles in the MAPT (rs2942168; P = .0006) and CCDC62 (rs12817488; P = .004) loci were associated with global parkinsonism, and these associations remained after exclusion of patients with a PD diagnosis. 24514572

2014
dbSNP: rs3135500
rs3135500
NOD2
0.010 GeneticVariation BEFREE For rs3135500, differences in genotype distributions, dominant and additive genetic models, were found between MSA and HCs, and between MSA Parkinsonism (MSA-P) patients and HCs. 29881342

2018
dbSNP: rs33939927
rs33939927
LRRK2
0.030 GeneticVariation BEFREE Clinically, p.R1441C carriers had typical levodopa-responsive parkinsonism with tremor as the most common presenting feature. 18197194

2008