Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918494
rs121918494
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.700 CausalMutation CLINVAR Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 27683237

2017
dbSNP: rs121918494
rs121918494
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
dbSNP: rs121918494
rs121918494
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		C 0.700 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994