Gene: FGFR2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776587763
rs776587763
FGFR2
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918504
rs121918504
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564919048
rs1564919048
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918501
rs121918501
FGFR2
C 0.830 CausalMutation CLINVAR

dbSNP: rs121918496
rs121918496
FGFR2
C 0.820 CausalMutation CLINVAR

dbSNP: rs121918490
rs121918490
FGFR2
C 0.810 CausalMutation CLINVAR

dbSNP: rs121918492
rs121918492
FGFR2
C 0.810 CausalMutation CLINVAR

dbSNP: rs1057519036
rs1057519036
FGFR2
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918493
rs121918493
FGFR2
C 0.800 CausalMutation CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450

2016
dbSNP: rs121918493
rs121918493
FGFR2
C 0.800 CausalMutation CLINVAR Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. 27028366

2016
dbSNP: rs121918493
rs121918493
FGFR2
C 0.800 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918494
rs121918494
FGFR2
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918500
rs121918500
FGFR2
C 0.800 CausalMutation CLINVAR

dbSNP: rs79184941
rs79184941
FGFR2
C 0.720 CausalMutation CLINVAR

dbSNP: rs1057519038
rs1057519038
FGFR2
C 0.710 GeneticVariation CLINVAR

dbSNP: rs121918507
rs121918507
FGFR2
C 0.710 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 8651276

1996
dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257

1995
dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. 9700203

1998
dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. 17251833

2007
dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995
dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation. 15389579

2005
dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 25867380

2015
dbSNP: rs77543610
rs77543610
FGFR2
C 0.710 CausalMutation CLINVAR Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. 20489451

2010