Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608623
rs267608623
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C2748910
Disease:
Rett Syndrome, Atypical
AC 0.700 CausalMutation CLINVAR