Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553923787
rs1553923787
PPP3CA
0.800 GeneticVariation UNIPROT Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 29432562

2018
dbSNP: rs1553923787
rs1553923787
PPP3CA
0.800 GeneticVariation UNIPROT De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 28942967

2017
dbSNP: rs1553923787
rs1553923787
PPP3CA
T 0.800 CausalMutation CLINVAR