Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11931074
rs11931074
0.010 GeneticVariation BEFREE We evaluated the association between SNCA single nucleotide polymorphisms (single nucleotide polymorphisms, SNPs - rs2583988, rs356219, rs2736990, and rs11931074) and PD risk in a Brazilians sample. 28676755

2017

dbSNP: rs2736990
rs2736990
0.010 GeneticVariation BEFREE Further, the G-rs356219 and C-rs2736990 alleles were associated with early onset PD. 28676755

2017

dbSNP: rs356182
rs356182
0.010 GeneticVariation BEFREE SNCA rs356182 variant increases risk of sporadic Parkinson's disease in ethnic Chinese. 27538639

2016

dbSNP: rs356219
rs356219
0.020 GeneticVariation BEFREE Further, the G-rs356219 and C-rs2736990 alleles were associated with early onset PD. 28676755

2017

dbSNP: rs356219
rs356219
0.020 GeneticVariation BEFREE SNCA rs356219 variant increases risk of sporadic Parkinson's disease in ethnic Chinese. 23737253

2013

dbSNP: rs104893877
rs104893877
0.040 GeneticVariation BEFREE Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease. 31816026

2020

dbSNP: rs104893877
rs104893877
0.040 GeneticVariation BEFREE Here we generated de novo induced pluripotent stem cells (iPSCs) from patients harboring the p.A53T mutation and developed a robust model that captures PD pathogenic processes under basal conditions. iPSC-derived mutant neurons displayed novel disease-relevant phenotypes, including protein aggregation, compromised neuritic outgrowth, and contorted or fragmented axons with swollen varicosities containing αSyn and Tau. 28416701

2017

dbSNP: rs104893877
rs104893877
0.040 GeneticVariation BEFREE We report here the immunohistochemical, biochemical and ultrastructural characterization of alpha-syn neuropathology in a case of familial PD with the A53T alpha-syn gene mutation. 15144854

2004

dbSNP: rs104893877
rs104893877
0.040 GeneticVariation BEFREE The clinical characteristics of 15 patients with PD living in Greece with the Ala53Thr alpha-synuclein mutation (alpha-synPD) were compared with patients with sporadic Parkinson's disease (sPD). 11309462

2001