Gene: PEX12 ×
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: rs398123301
rs398123301
PEX12
A 0.700 CausalMutation CLINVAR Zellweger syndrome and secondary mitochondrial myopathy. 25287621

2015
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: 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: 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: 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: rs61752107
rs61752107
PEX12
AAGGC 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs187526749
rs187526749
PEX12
G 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs61752107
rs61752107
PEX12
AAGGC 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs144259891
rs144259891
PEX12
A 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs187526749
rs187526749
PEX12
G 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs61752106
rs61752106
PEX12
A 0.700 CausalMutation CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978

2004
dbSNP: rs61752106
rs61752106
PEX12
A 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in disorders of peroxisome biogenesis. 10527683

1999
dbSNP: rs144259891
rs144259891
PEX12
A 0.700 CausalMutation CLINVAR Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 9792857

1998
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 9792857

1998
dbSNP: rs61752107
rs61752107
PEX12
AAGGC 0.700 CausalMutation CLINVAR Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 9792857

1998