Gene: FGFR2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918491
rs121918491
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: rs1057519037
rs1057519037
FGFR2
AA 0.700 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936

2014
dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children. 9586546

1998
dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs1057519037
rs1057519037
FGFR2
AA 0.700 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995
dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432

2005
dbSNP: rs1057519043
rs1057519043
FGFR2
A 0.700 GeneticVariation CLINVAR Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach. 23754559

2013
dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424

2003
dbSNP: rs1057519043
rs1057519043
FGFR2
A 0.700 GeneticVariation CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174

1996
dbSNP: rs1057519043
rs1057519043
FGFR2
A 0.700 GeneticVariation CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301

2002