Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064797104
rs1064797104
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		CCTCAGCTTTTCGCTTCCTGCCGGGG 0.700 CausalMutation CLINVAR