Gene: FGFR2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519043
rs1057519043
FGFR2
T 0.700 GeneticVariation CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs1057519044
rs1057519044
FGFR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 CausalMutation CLINVAR Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 27683237

2017
dbSNP: rs1434545235
rs1434545235
FGFR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907372
rs387907372
FGFR2
AAG 0.700 CausalMutation CLINVAR