Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758014228
rs758014228
ATP13A2
C 0.700 GeneticVariation CLINVAR Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). 21696388

2012
dbSNP: rs758014228
rs758014228
ATP13A2
C 0.700 GeneticVariation CLINVAR Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 16964263

2006