Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752107
rs61752107
PEX12
AAGGC 0.700 CausalMutation CLINVAR Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. 29389947

2018
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry. 28089346

2017
dbSNP: rs61753230
rs61753230
PEX6
A 0.700 CausalMutation CLINVAR Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 29220678

2017
dbSNP: rs267608216
rs267608216
PEX6
A 0.700 CausalMutation CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843

2016
dbSNP: rs267608240
rs267608240
PEX6
T 0.700 CausalMutation CLINVAR Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. 26700162

2016
dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206

2016
dbSNP: rs398123301
rs398123301
PEX12
A 0.700 CausalMutation CLINVAR Zellweger syndrome and secondary mitochondrial myopathy. 25287621

2015
dbSNP: rs61750428
rs61750428
PEX1 ; GATAD1
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372

2014
dbSNP: rs267608216
rs267608216
PEX6
A 0.700 CausalMutation CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303

2013
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 23430938

2012
dbSNP: rs144259891
rs144259891
PEX12
A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs1556586479
rs1556586479
PEX26
A 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs1567730901
rs1567730901
PEX12
C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs187526749
rs187526749
PEX12
G 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs267608227
rs267608227
PEX6
T 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs267608249
rs267608249
PEX6
G 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs398123301
rs398123301
PEX12
A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs398123408
rs398123408
PEX1
ATCCACACTG 0.700 CausalMutation CLINVAR Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 21846392

2011
dbSNP: rs61750417
rs61750417
PEX1
A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61750435
rs61750435
PEX10
CT 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61752093
rs61752093
PEX10
C 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61752106
rs61752106
PEX12
A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61752122
rs61752122
PEX2
T 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011