Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753224
rs61753224
PEX6
A 0.800 CausalMutation CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843

2016
dbSNP: rs61753224
rs61753224
PEX6
0.800 GeneticVariation UNIPROT Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843

2016
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: rs61753224
rs61753224
PEX6
A 0.800 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
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: 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