Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554127491
rs1554127491
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267608241
rs267608241
PEX6
A 0.700 CausalMutation CLINVAR

dbSNP: rs61753224
rs61753224
PEX6
A 0.700 CausalMutation CLINVAR

dbSNP: rs755716911
rs755716911
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs763459576
rs763459576
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs781475201
rs781475201
PEX6
T 0.700 CausalMutation CLINVAR

dbSNP: rs1491384052
rs1491384052
PEX6
CA 0.700 GeneticVariation CLINVAR Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. 8940266

1996
dbSNP: rs267608249
rs267608249
PEX6
G 0.700 CausalMutation CLINVAR The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 8670792

1996
dbSNP: rs398123408
rs398123408
PEX1
ATCCACACTG 0.700 CausalMutation CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997
dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997
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
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. 9585609

1998
dbSNP: rs61750415
rs61750415
PEX1
TA 0.700 CausalMutation CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258

1999
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in disorders of peroxisome biogenesis. 10527683

1999
dbSNP: rs61752124
rs61752124
PEX2
A 0.700 CausalMutation CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859

1999
dbSNP: rs61750435
rs61750435
PEX10
CT 0.700 CausalMutation CLINVAR Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081

2000
dbSNP: rs61752093
rs61752093
PEX10
C 0.700 CausalMutation CLINVAR Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081

2000
dbSNP: rs61752140
rs61752140
PEX6
0.010 GeneticVariation BEFREE These results indicate that L57P in Pex6p is a temperature-sensitive mutation causing the milder phenotype in a patient with PBD in CG-C. 11004248

2000
dbSNP: rs267608240
rs267608240
PEX6
T 0.700 CausalMutation CLINVAR The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. 11355018

2001
dbSNP: rs398123408
rs398123408
PEX1
ATCCACACTG 0.700 CausalMutation CLINVAR PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265

2002
dbSNP: rs61750426
rs61750426
PEX1 ; GATAD1
C 0.700 CausalMutation CLINVAR PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265

2002
dbSNP: rs61752093
rs61752093
PEX10
C 0.700 CausalMutation CLINVAR Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 12794690

2003
dbSNP: rs61752129
rs61752129
PEX26
GC 0.700 CausalMutation CLINVAR Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 12851857

2003