Gene: PRKN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751037529
rs751037529
PRKN
0.810 GeneticVariation BEFREE The homozygous variant, c.850G>C (p.G284R), in the parkin gene is possibly responsible for AR-JP in this pedigree. 27177722

2016
dbSNP: rs751037529
rs751037529
PRKN
0.810 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs751037529
rs751037529
PRKN
G 0.810 CausalMutation CLINVAR

dbSNP: rs147757966
rs147757966
PRKN
T 0.800 CausalMutation CLINVAR Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin. 27534820

2016
dbSNP: rs147757966
rs147757966
PRKN
T 0.800 CausalMutation CLINVAR Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity. 26631732

2016
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Parkinson's Disease in Saudi Patients: A Genetic Study. 26274610

2015
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma. 25877876

2015
dbSNP: rs191486604
rs191486604
PRKN
T 0.800 GeneticVariation CLINVAR Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin. 25939424

2015
dbSNP: rs34424986
rs34424986
PRKN
A 0.800 CausalMutation CLINVAR Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. 25815004

2015
dbSNP: rs34424986
rs34424986
PRKN
A 0.800 CausalMutation CLINVAR The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants. 25907632

2015
dbSNP: rs34424986
rs34424986
PRKN
A 0.800 CausalMutation CLINVAR Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease. 26188007

2015
dbSNP: rs147757966
rs147757966
PRKN
T 0.800 CausalMutation CLINVAR Phosphorylation of Parkin at Serine65 is essential for activation: elaboration of a Miro1 substrate-based assay of Parkin E3 ligase activity. 24647965

2014
dbSNP: rs34424986
rs34424986
PRKN
A 0.800 CausalMutation CLINVAR Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China. 24831986

2014
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease. 24167364

2013
dbSNP: rs137853054
rs137853054
PRKN
A 0.800 CausalMutation CLINVAR Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease. 23275044

2013
dbSNP: rs137853054
rs137853054
PRKN
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs137853057
rs137853057
PRKN
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs137853058
rs137853058
PRKN
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs137853060
rs137853060
PRKN
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs147757966
rs147757966
PRKN
T 0.800 CausalMutation CLINVAR A molecular explanation for the recessive nature of parkin-linked Parkinson's disease. 23770917

2013
dbSNP: rs191486604
rs191486604
PRKN
T 0.800 CausalMutation CLINVAR The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons. 23751051

2013
dbSNP: rs191486604
rs191486604
PRKN
T 0.800 GeneticVariation CLINVAR Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. 23818421

2013
dbSNP: rs191486604
rs191486604
PRKN
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs34424986
rs34424986
PRKN
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs397514694
rs397514694
PRKN
0.800 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013