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: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. 15316116

2004
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. 20133659

2010
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. 27028366

2016
dbSNP: rs121909627
rs121909627
FGFR1
0.800 GeneticVariation UNIPROT Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845

2000
dbSNP: rs121918490
rs121918490
FGFR2
C 0.710 CausalMutation CLINVAR Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. 8755573

1996
dbSNP: rs121918487
rs121918487
FGFR2
T 0.700 CausalMutation CLINVAR Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. 8755573

1996
dbSNP: rs121918492
rs121918492
FGFR2
0.810 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs121918488
rs121918488
FGFR2
0.800 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs121918497
rs121918497
FGFR2
0.800 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998