Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801474
rs1801474
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 GeneticVariation BEFREE The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD. 31512170

2020

dbSNP: rs1801474
rs1801474
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 GeneticVariation BEFREE To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique. 19909784

2010

dbSNP: rs1801474
rs1801474
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 GeneticVariation BEFREE We analysed Ser167Asn in 116 patients with sporadic PD and 124 controls, matched for age and gender. 12584415

2003

dbSNP: rs1801474
rs1801474
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 GeneticVariation BEFREE In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls. 12165399

2002

dbSNP: rs1801474
rs1801474
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 GeneticVariation BEFREE To study the potential involvement of the parkin gene in development of non-hereditary idiopathic PD, a codon 167 serine/asparagine (167S/N) polymorphism located in its exon 4 was analyzed by direct sequencing in 71 patients with sporadic PD and 109 age-matched non-PD controls. 10511432

1999

dbSNP: rs1801582
rs1801582
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.030 GeneticVariation BEFREE The IVS4 + 30T>G, Ser167Asn (G>A) and Val380Leu (G>C) polymorphisms appeared to alter element concentrations in PD. 31512170

2020

dbSNP: rs1801582
rs1801582
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.030 GeneticVariation BEFREE Our results indicate that co-occurrence of G/G V380L PARK2 and G/G rs2306604 TFAM on the prooxidative HV cluster background can contribute to PD risk. 22361577

2012

dbSNP: rs1801582
rs1801582
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.030 GeneticVariation BEFREE Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. 14639672

2003

dbSNP: rs1438259227
rs1438259227
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance. 24313877

2014

dbSNP: rs1438259227
rs1438259227
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance. 18704525

2008

dbSNP: rs1801334
rs1801334
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique. 19909784

2010

dbSNP: rs1801334
rs1801334
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls. 12165399

2002

dbSNP: rs34424986
rs34424986
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene. 29353703

2018

dbSNP: rs34424986
rs34424986
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE A total of two heterozygous mutations in exon 7 (R275W; 0.2%) were detected in the PD group, but none were found in controls. 16019250

2005

dbSNP: rs9347683
rs9347683
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients. 21176923

2011

dbSNP: rs9347683
rs9347683
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 GeneticVariation BEFREE In addition, homozygosity for the minor allele of rs9347683 may significantly reduce the age of onset of PD. 18387843

2009

dbSNP: rs1258359845
rs1258359845
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE In order to analyse the association of PD with these and two previously described polymorphisms (1281 G/A, Asp394Asn, and 601 G/A, Ser167Asn) we genotyped 105 patients and 150 healthy controls. 12165399

2002

dbSNP: rs1330260959
rs1330260959
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE To assess the association of Y52C and M115I with the risk of PD, we conducted a case-control study in a cohort of PD and ethnically matched controls. 25029497

2014

dbSNP: rs147757966
rs147757966
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE Interestingly, Parkin with missense mutations associated with Parkinson disease (PD) in the UBL domain, such as K27N, R33Q, and A46P, did not translocate to the mitochondria and induce E3 ligase activity by m-chlorophenyl hydrazone treatment, which correlated with the interaction between the R1 domain and the UBL domain with those PD mutations. 26631732

2016

dbSNP: rs182893847
rs182893847
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE Considering the role of mitochondrial dysfunction in PD pathogenesis, our results imply a causative role for the M458L mutation in neurodegeneration. 29223129

2018

dbSNP: rs199657839
rs199657839
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD. 16793319

2006

dbSNP: rs368134308
rs368134308
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD. 16793319

2006

dbSNP: rs377591051
rs377591051
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE Considering the potential interest of the skin as a target for the development of biomarkers in Parkinson's Disease (PD), in this work we aimed to evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-synuclein) deposition in the skin of E46K-SNCA carriers as compared to those observed in parkin gene mutation (PARK2) carriers and healthy controls. 31178336

2019

dbSNP: rs56092260
rs56092260
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE A polymorphism of R/W366 in the Parkin gene was found to be associated with a protective factor for sporadic PD. 10965160

2000

dbSNP: rs571092914
rs571092914
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation BEFREE Linking a compound-heterozygous Parkin mutant (Q311R and A371T) to Parkinson's disease by using proteomic and molecular approaches. 25865804

2016