Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750435
rs61750435
PEX10
CT 0.700 CausalMutation CLINVAR Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019

2010
dbSNP: rs61750435
rs61750435
PEX10
CT 0.700 CausalMutation CLINVAR Zellweger syndrome resulting from maternal isodisomy of chromosome 1. 17702006

2007
dbSNP: rs61750435
rs61750435
PEX10
CT 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs61750435
rs61750435
PEX10
CT 0.700 CausalMutation CLINVAR Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081

2000