Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554490549
rs1554490549
CNTNAP2
C 0.700 CausalMutation CLINVAR Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880

2006