Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34324426
rs34324426
PEX6
0.800 GeneticVariation UNIPROT

dbSNP: rs61753219
rs61753219
PEX6
A 0.800 CausalMutation CLINVAR

dbSNP: rs769896492
rs769896492
PEX6
A 0.800 CausalMutation CLINVAR

dbSNP: rs1561831003
rs1561831003
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267608241
rs267608241
PEX6
A 0.700 CausalMutation CLINVAR

dbSNP: rs863225083
rs863225083
PEX6
C 0.700 CausalMutation CLINVAR

dbSNP: rs61753224
rs61753224
PEX6
A 0.800 CausalMutation CLINVAR A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. 11873320

2002
dbSNP: rs34324426
rs34324426
PEX6
T 0.800 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs61753219
rs61753219
PEX6
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs61753224
rs61753224
PEX6
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs769896492
rs769896492
PEX6
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs886037779
rs886037779
PEX6
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs886037780
rs886037780
PEX6
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs886037781
rs886037781
PEX6
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs886037782
rs886037782
PEX6
0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
dbSNP: rs267608216
rs267608216
PEX6
A 0.700 CausalMutation CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205

2009
dbSNP: rs61753224
rs61753224
PEX6
A 0.800 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs267608216
rs267608216
PEX6
A 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs34324426
rs34324426
PEX6
T 0.800 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs34324426
rs34324426
PEX6
T 0.800 CausalMutation CLINVAR Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25079577

2014
dbSNP: rs34324426
rs34324426
PEX6
T 0.800 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
dbSNP: rs61753219
rs61753219
PEX6
0.800 GeneticVariation UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
dbSNP: rs61753224
rs61753224
PEX6
0.800 GeneticVariation UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
dbSNP: rs769896492
rs769896492
PEX6
0.800 GeneticVariation UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
dbSNP: rs886037779
rs886037779
PEX6
0.800 GeneticVariation UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015