Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801582
rs1801582
0.020 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: rs368134308
rs368134308
0.020 GeneticVariation BEFREE Furthermore, an N-terminal ubiquitin-like domain within parkin is critical for the activation of the 26S proteasome through enhancing the interaction between 19S proteasomal subunits, whereas the PD-linked R42P mutant abolishes this action. 20810900

2010

dbSNP: rs368134308
rs368134308
0.020 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: rs1801582
rs1801582
0.020 GeneticVariation BEFREE Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. 14639672

2004

dbSNP: rs147757966
rs147757966
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: rs571092914
rs571092914
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

dbSNP: rs746922936
rs746922936
0.010 GeneticVariation BEFREE Additionally, gene-based and single-variant analyses demostrated that GBA gene variants (p.L483P, p.R83C, p.N409S, p.H294Q and p.E365K) increase PD risk. 27094865

2016

dbSNP: rs761213043
rs761213043
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

dbSNP: rs747984930
rs747984930
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

2015

dbSNP: rs72480422
rs72480422
0.010 GeneticVariation BEFREE In the present study, the D280N variant was observed in three early onset PD-affected siblings and was not present in a 63-year-old unaffected sibling. 18514563

2009

dbSNP: rs9347683
rs9347683
0.010 GeneticVariation BEFREE In addition, homozygosity for the minor allele of rs9347683 may significantly reduce the age of onset of PD. 18387843

2009

dbSNP: rs141366047
rs141366047
0.010 GeneticVariation BEFREE Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease. 16269266

2006

dbSNP: rs1801334
rs1801334
0.010 GeneticVariation BEFREE In this report, we evaluated the allele frequency of the D/N394 single nucleotide polymorphism (SNP) in exon 11 of the parkin gene in 200 Japanese patients with sporadic Parkinson's disease (PD) and 200 normal controls. 16269266

2006

dbSNP: rs199657839
rs199657839
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: rs778798543
rs778798543
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: rs34424986
rs34424986
0.010 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