Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. 8755573

1996
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR First-trimester prenatal diagnosis of Crouzon syndrome. 8650126

1996
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. 15316116

2004
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. 20133659

2010
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation. 22558232

2012
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015