Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764343290
rs764343290
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		G 0.700 CausalMutation CLINVAR Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. 19564653

2010
dbSNP: rs764343290
rs764343290
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		G 0.700 CausalMutation CLINVAR Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. 19806373

2010