Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1287121256
rs1287121256
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C4025871
Disease:
Abnormality of the face
G 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017