Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918502
rs121918502
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.710 CausalMutation CLINVAR Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 18391498

2008
dbSNP: rs121918502
rs121918502
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.710 CausalMutation CLINVAR Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. 16418739

2006
dbSNP: rs121918502
rs121918502
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.710 CausalMutation CLINVAR Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 10406670

1999
dbSNP: rs121918502
rs121918502
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.710 CausalMutation CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174

1996