Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204835
rs786204835
PURA
G 0.700 CausalMutation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565

2015
dbSNP: rs786204835
rs786204835
PURA
G 0.700 CausalMutation CLINVAR Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. 25342064

2014