Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554386687
rs1554386687
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017