Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994152
rs113994152
TSEN54
0.020 GeneticVariation BEFREE Inclusion criteria were imaging findings of PCH2 and a p.A307S mutation. 24886362

2014
dbSNP: rs113994152
rs113994152
TSEN54
0.020 GeneticVariation BEFREE We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype. 20956791

2010