Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs137852538
rs137852538
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
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: rs3135500
rs3135500
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: rs63750072
rs63750072
0.010 GeneticVariation BEFREE Six variants (rs1801334, rs33995883, rs35507033, rs781737269, rs779760087, and rs63750072) were evaluated as pathogenic by at least one in-silico predictor.No single "founder" pathogenic variant associated with parkinsonism has been found in any of the probands from researched pedigree. 30235682

2018

dbSNP: rs63750522
rs63750522
0.010 GeneticVariation BEFREE Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism. 30180983

2018

dbSNP: rs63750577
rs63750577
0.010 GeneticVariation BEFREE A review of the available case reports indicates some phenotypic variability associated with the S170F mutation including different constellations of symptoms such as parkinsonism and delusions. 29466804

2018

dbSNP: rs772784579
rs772784579
GRN
0.010 GeneticVariation BEFREE GRN p.T487I mutation, which decreases the stability of progranulin protein, could be a new causative mutation in patients with atypical parkinsonian disorders. 29530724

2018

dbSNP: rs1239756674
rs1239756674
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: rs1290141855
rs1290141855
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: rs542171324
rs542171324
0.010 GeneticVariation BEFREE Hence, alpha-synuclein p.A53V homozygous mutation leads to a distinct phenotype of progressive parkinsonism and cognitive decline, commonly observed in patients with SNCA missense mutation or multiplications. 28666710

2017

dbSNP: rs5569
rs5569
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: rs74315360
rs74315360
0.010 GeneticVariation BEFREE From the clinical information available for the index case, the phenotype of mild, slowly-progressive Parkinsonism is consistent with previous reports of p.A217D disease and of PINK1 disease phenotype more generally. 28789629

2017

dbSNP: rs748705829
rs748705829
0.010 GeneticVariation BEFREE For this study, SIRT3-myc was administered both before and after viral induction of parkinsonism with the AAV-expressing mutant (A53T) α-synuclein. 28673739

2017

dbSNP: rs757199733
rs757199733
TTN
0.010 GeneticVariation BEFREE The P88L mutation additionally featured early myoclonus followed by Parkinsonism. 28550247

2017

dbSNP: rs767543900
rs767543900
0.010 GeneticVariation BEFREE Although cognitive decline has been recognized as a feature of the full-blown clinical picture of p.A53T related parkinsonism, a predominant frontotemporal dementia-like phenotype at presentation has not been previously described. 28012952

2017

dbSNP: rs781442277
rs781442277
0.010 GeneticVariation BEFREE Given the role of 2p23 locus in patients with intellectual disability and the previously reported PTRHD1 mutation (c.155G>A) in patients with parkinsonism and cognitive dysfunction, we concluded that the PTRHD1 mutation identified in this study is likely to be responsible for the phenotypic features of the family under consideration. 27753167

2017

dbSNP: rs80338892
rs80338892
TH
0.010 GeneticVariation BEFREE The mutation p.Arg233His was predicted to link to the second type of TH deficiency (dopa-responsive infantile parkinsonism with delayed motor development). 28087438

2017

dbSNP: rs1426868527
rs1426868527
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: rs1555727942
rs1555727942
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: rs2421947
rs2421947
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: rs267604921
rs267604921
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: rs34015634
rs34015634
0.010 GeneticVariation BEFREE Analyzing family members of the proband with p.I2012T revealed co-segregation of the variant and parkinsonism. 27628070

2016

dbSNP: rs369634041
rs369634041
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: rs41311141
rs41311141
0.010 GeneticVariation BEFREE After filtering against common variants (minor allele frequency (MAF) < 0.01), 2 noncoding and 1 synonymous rare mutation potentially associable with parkinsonism were identified: GIGYF2-GRB10 Interacting GYF Protein 2, PARK11 (c.*2030G > A, rs115669549); VPS35 gene-vacuolar protein sorting 35, PARK17 (c.102 + 33G > A, rs192115886); and FBXO7-F-box only protein 7 gene, PARK15 (c.540A > G, rs41311141). 27861377

2016