Gene: FGFR2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032

1995
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032

1995
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615

1993
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615

1993
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Clinical variability in patients with Apert's syndrome. 10067911

1999
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Clinical variability in patients with Apert's syndrome. 10067911

1999
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195

2000
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195

2000
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 10735635

2000
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 10735635

2000
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs1554928978
rs1554928978
FGFR2
G 0.700 GeneticVariation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 15793702

2005