Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
GBA
G 0.730 SusceptibilityMutation CLINVAR

dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555507479
rs1555507479
GNAO1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs2230288
rs2230288
GBA
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs756677845
rs756677845
PINK1
C 0.700 CausalMutation CLINVAR

dbSNP: rs121917763
rs121917763
TH
0.030 GeneticVariation BEFREE Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341

1996
dbSNP: rs121917763
rs121917763
TH
0.030 GeneticVariation BEFREE Leu205Pro polymorphism is a rare mutation that is reported to cause Parkinsonism in infancy for individuals who are homozygous for the mutated type. 9613851

1998
dbSNP: rs121917763
rs121917763
TH
0.030 GeneticVariation BEFREE The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism. 10661862

1999
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation BEFREE The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism. 10802785

2000
dbSNP: rs368134308
rs368134308
PRKN
0.010 GeneticVariation BEFREE New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism. 11222788

2001
dbSNP: rs104893877
rs104893877
SNCA
0.070 GeneticVariation BEFREE Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. 11261505

2001
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.020 GeneticVariation BEFREE Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. 11376188

2001
dbSNP: rs63750416
rs63750416
MAPT
0.010 GeneticVariation BEFREE Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. 11585254

2001
dbSNP: rs63751273
rs63751273
MAPT
0.030 GeneticVariation BEFREE Secondly, either of the two less prevalent genotypes observed in patient 2 may be the factor to modify the phenotype of P301L mutation into those unusual clinical features with prominent parkinsonism. 12111297

2002
dbSNP: rs63750444
rs63750444
PSEN1
0.010 GeneticVariation BEFREE A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. 12111359

2002
dbSNP: rs63750756
rs63750756
MAPT
0.100 GeneticVariation BEFREE Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. 12492138

2002
dbSNP: rs1045642
rs1045642
ABCB1
0.020 GeneticVariation BEFREE A significant association between patients with parkinsonism exposed to pesticides and C3435T polymorphism of the MDR1 gene was found. 12724617

2003
dbSNP: rs63751438
rs63751438
MAPT
0.020 GeneticVariation BEFREE Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837

2003
dbSNP: rs63751165
rs63751165
MAPT
0.020 GeneticVariation BEFREE Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N. 15178939

2004
dbSNP: rs63750680
rs63750680
PSEN1
0.010 GeneticVariation BEFREE New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism. 15469450

2004
dbSNP: rs63751165
rs63751165
MAPT
0.020 GeneticVariation BEFREE Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. 15615814

2005
dbSNP: rs34637584
rs34637584
LRRK2
0.100 GeneticVariation BEFREE In summary, our study demonstrates that LRRK2 G2019S accounts for parkinsonism in several families within Europe and North America. 15726496

2005
dbSNP: rs104893875
rs104893875
SNCA
0.010 GeneticVariation BEFREE We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies. 16001411

2005
dbSNP: rs104894685
rs104894685
FTL
0.010 GeneticVariation BEFREE The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. 16116125

2005
dbSNP: rs758414077
rs758414077
FTL
0.010 GeneticVariation BEFREE The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. 16116125

2005