Variant "PDXK:c.622+118G>A"
Search result: 1 record
Variant information
Gene:
PDXK 
Variant:
PDXK:c.622+118G>A 
Genomic location:
chr21:45172628(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003681.4:c.622+118G>A
dbSNP ID:
rs2010795  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Parkinsonism (HP:0001300)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=1.2×10(-7), OR=1.3; 95% CI: 1.18-1.44 
    Effect:
    A DNA variant (rs2010795) in PDXK associated with an increased risk of PD in the German cohort
    Reference:
    PMID20035503
    Title:
    Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
    Species studied:
    Human
    Abstract:
    The etiology of Parkinson disease (PD) is complex and multifactorial, with hereditary and environmental factors contributing. Monogenic forms have provided molecular clues to disease mechanisms but genetic modifiers of idiopathic PD are still to be determined.