Gene: FGFR2 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913477
rs121913477
FGFR2
0.810 GeneticVariation BEFREE Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. 18247426

2008
dbSNP: rs121913478
rs121913478
FGFR2
0.810 GeneticVariation BEFREE The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. 17449949

2007
dbSNP: rs374608214
rs374608214
FGFR2
0.010 GeneticVariation BEFREE Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. 11424131

2001