Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752115
rs61752115
PEX13
0.020 GeneticVariation BEFREE The immunofluorescent staining with anti-Pex13p antibody also revealed TS phenotype of the I326T mutant protein itself in the patient cells. 16006427

2005
dbSNP: rs61752115
rs61752115
PEX13
0.020 GeneticVariation BEFREE A more mildly affected NALD patient (H-01), whose fibroblasts showed the temperature-sensitive (TS) phenotype, was homozygous for a missense mutation in the SH3 domain of Pex13p, I326T. 10332040

1999