Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039227
rs886039227
DCTN1
0.020 GeneticVariation BEFREE A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy. 29499916

2018
dbSNP: rs886039227
rs886039227
DCTN1
0.020 GeneticVariation BEFREE A novel heterozygous mutation, DCTN1 c.156T>G, encoding p.Phe52Leu, segregates with parkinsonism in a Japanese family. 24676999

2014