Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in disorders of peroxisome biogenesis. 10527683

1999
dbSNP: rs61752100
rs61752100
PEX12
C 0.700 GeneticVariation CLINVAR Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 9792857

1998