Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315353
rs74315353
PARK7
C 0.810 CausalMutation CLINVAR

dbSNP: rs28938172
rs28938172
PARK7
C 0.800 CausalMutation CLINVAR

dbSNP: rs74315351
rs74315351
PARK7
A 0.800 CausalMutation CLINVAR

dbSNP: rs74315352
rs74315352
PARK7
C 0.800 CausalMutation CLINVAR

dbSNP: rs781600849
rs781600849
PARK7
GT 0.700 CausalMutation CLINVAR

dbSNP: rs74315353
rs74315353
PARK7
0.810 GeneticVariation UNIPROT A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. 14713311

2003
dbSNP: rs74315353
rs74315353
PARK7
0.810 GeneticVariation UNIPROT L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. 12851414

2003
dbSNP: rs74315353
rs74315353
PARK7
0.810 GeneticVariation UNIPROT Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 12446870

2003
dbSNP: rs74315353
rs74315353
PARK7
0.810 GeneticVariation UNIPROT The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260

2003
dbSNP: rs74315351
rs74315351
PARK7
0.800 GeneticVariation UNIPROT L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. 12851414

2003
dbSNP: rs74315351
rs74315351
PARK7
0.800 GeneticVariation UNIPROT A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. 14713311

2003
dbSNP: rs74315351
rs74315351
PARK7
0.800 GeneticVariation UNIPROT The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260

2003
dbSNP: rs74315351
rs74315351
PARK7
0.800 GeneticVariation UNIPROT Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 12446870

2003
dbSNP: rs74315352
rs74315352
PARK7
0.800 GeneticVariation UNIPROT A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. 14713311

2003
dbSNP: rs74315352
rs74315352
PARK7
0.800 GeneticVariation UNIPROT The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260

2003
dbSNP: rs74315352
rs74315352
PARK7
0.800 GeneticVariation UNIPROT Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 12446870

2003
dbSNP: rs74315352
rs74315352
PARK7
0.800 GeneticVariation UNIPROT L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. 12851414

2003
dbSNP: rs774005786
rs774005786
PARK7
0.700 GeneticVariation UNIPROT The role of pathogenic DJ-1 mutations in Parkinson's disease. 12953260

2003
dbSNP: rs774005786
rs774005786
PARK7
0.700 GeneticVariation UNIPROT A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. 14713311

2003
dbSNP: rs774005786
rs774005786
PARK7
0.700 GeneticVariation UNIPROT Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 12446870

2003
dbSNP: rs774005786
rs774005786
PARK7
0.700 GeneticVariation UNIPROT L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. 12851414

2003
dbSNP: rs74315353
rs74315353
PARK7
0.810 GeneticVariation UNIPROT Analyzing the PARK7/DJ1 gene in 104 EOPD patients, we identified a third mutation, c.192G>C (p.E64D), associated with EOPD in a patient of Turkish ancestry and characterized the functional significance of this amino acid substitution. 15365989

2004
dbSNP: rs74315353
rs74315353
PARK7
0.810 GeneticVariation BEFREE Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). 15365989

2004
dbSNP: rs74315353
rs74315353
PARK7
0.810 GeneticVariation UNIPROT Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1. 14607841

2004
dbSNP: rs74315353
rs74315353
PARK7
0.810 GeneticVariation UNIPROT Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. 15254937

2004