Gene: PLP1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630293
rs132630293
PLP1 ; RAB9B
0.020 GeneticVariation BEFREE Here, we demonstrate that an anti-malaria drug, chloroquine, decreases the amount of an ER-resident mutant PLP1 containing an alanine-243 to valine (A243V) substitution, which induces severe PMD in human. 24521562

2014
dbSNP: rs132630293
rs132630293
PLP1 ; RAB9B
0.020 GeneticVariation BEFREE The same codon, but to valine (Ala242Val) is mutated in jimpy(msd) mouse, which is the frequently used animal model for PMD. 11786921

2002