Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45467995
Entrez Id: 65018;100861548
Gene Symbol: PINK1;PINK1-AS
CUI: C0242422
Parkinsonian Disorders
0.010 GeneticVariation BEFREE Four PINK1 homozygous mutations, three novel (Q129X, Q129fsX157, G440E, and one previously reported; Q456X), segregate with parkinsonism in 46 individuals in 14 of 92 families (15%). 18685134 2008