Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434455
rs121434455
PEX1
0.800 GeneticVariation UNIPROT Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 16088892

2005
dbSNP: rs121434455
rs121434455
PEX1
0.800 GeneticVariation UNIPROT Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 11439091

2001
dbSNP: rs121434455
rs121434455
PEX1
0.800 GeneticVariation UNIPROT Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 9539740

1998
dbSNP: rs121434455
rs121434455
PEX1
0.800 GeneticVariation UNIPROT Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997
dbSNP: rs121434455
rs121434455
PEX1
G 0.800 GeneticVariation CLINVAR