Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608196
rs267608196
PEX5
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.010 GeneticVariation BEFREE The patients 2-01 (Zellweger syndrome) and 2-05 (neonatal adrenoleukodystrophy) have the reported mutations, R390X and N489K, and patient 2-03 (infantile Refsum disease) has a newly identified mutation, S563W. 10462504

1999
dbSNP: rs61752138
rs61752138
PEX5
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.010 GeneticVariation BEFREE The patients 2-01 (Zellweger syndrome) and 2-05 (neonatal adrenoleukodystrophy) have the reported mutations, R390X and N489K, and patient 2-03 (infantile Refsum disease) has a newly identified mutation, S563W. 10462504

1999