Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315356
rs74315356
0.030 GeneticVariation BEFREE In the present study we analysed fibroblasts from a patient carrying the homozygous mutation p.W437X in the PTEN-induced kinase 1 (PINK1), which manifested a very early onset parkinsonism. 18524835

2008

dbSNP: rs74315356
rs74315356
0.030 GeneticVariation BEFREE In the present study mitochondrial respiratory function of fibroblasts from a patient affected by early-onset parkinsonism carrying the homozygous W437X nonsense mutation in the PINK1 gene has been thoroughly characterized. 18473170

2008

dbSNP: rs74315356
rs74315356
0.030 GeneticVariation BEFREE PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. 16700027

2006