Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554119274
rs1554119274
CAMK2A
0.700 GeneticVariation UNIPROT A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. 29784083

2018