Gene: FGFR2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918499
rs121918499
FGFR2
A 0.840 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.820 CausalMutation CLINVAR

dbSNP: rs121918503
rs121918503
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1358919643
rs1358919643
FGFR2
A 0.700 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583

1995
dbSNP: rs1358919643
rs1358919643
FGFR2
A 0.700 CausalMutation CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581

1998
dbSNP: rs121918488
rs121918488
FGFR2
C 0.820 CausalMutation CLINVAR

dbSNP: rs121918502
rs121918502
FGFR2
C 0.820 CausalMutation CLINVAR

dbSNP: rs1057519047
rs1057519047
FGFR2
C 0.800 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918506
rs121918506
FGFR2
C 0.800 GeneticVariation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
C 0.760 CausalMutation CLINVAR

dbSNP: rs79184941
rs79184941
FGFR2
C 0.710 CausalMutation CLINVAR Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 8651276

1996
dbSNP: rs79184941
rs79184941
FGFR2
C 0.710 CausalMutation CLINVAR Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995
dbSNP: rs79184941
rs79184941
FGFR2
C 0.710 CausalMutation CLINVAR Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. 9462761

1998
dbSNP: rs79184941
rs79184941
FGFR2
C 0.710 CausalMutation CLINVAR Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. 22664175

2012
dbSNP: rs79184941
rs79184941
FGFR2
C 0.710 CausalMutation CLINVAR Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. 11390973

2001
dbSNP: rs79184941
rs79184941
FGFR2
C 0.710 CausalMutation CLINVAR The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome. 23495007

2013
dbSNP: rs79184941
rs79184941
FGFR2
C 0.710 CausalMutation CLINVAR Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 25867380

2015
dbSNP: rs79184941
rs79184941
FGFR2
C 0.710 CausalMutation CLINVAR A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation. 24489893

2014
dbSNP: rs1057519041
rs1057519041
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1434545235
rs1434545235
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs879253721
rs879253721
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs886037837
rs886037837
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918499
rs121918499
FGFR2
G 0.840 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
G 0.820 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013