Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518203
rs1057518203
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR