Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204990
rs786204990
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C2748910
Disease:
Rett Syndrome, Atypical
TTTTTA 0.700 CausalMutation CLINVAR