Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918492
rs121918492
FGFR2
C 0.810 CausalMutation CLINVAR

dbSNP: rs121909627
rs121909627
FGFR1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
FGFR2
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918497
rs121918497
FGFR2
G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121909641
rs121909641
FGFR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1434545235
rs1434545235
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs79184941
rs79184941
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918492
rs121918492
FGFR2
0.810 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918488
rs121918488
FGFR2
0.800 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918497
rs121918497
FGFR2
0.800 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs776587763
rs776587763
FGFR2
0.800 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Steroids in multiple sclerosis. 7989400

1994
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
dbSNP: rs121918492
rs121918492
FGFR2
0.810 GeneticVariation UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214

1995
dbSNP: rs121918492
rs121918492
FGFR2
0.810 GeneticVariation BEFREE We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome. 7581378

1995
dbSNP: rs121918488
rs121918488
FGFR2
0.800 GeneticVariation UNIPROT In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer. 8528214

1995
dbSNP: rs121918497
rs121918497
FGFR2
0.800 GeneticVariation UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214

1995