Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554122129
rs1554122129
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C0557874
Disease:
Global developmental delay
A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017