Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918487
rs121918487
FGFR2
0.020 GeneticVariation BEFREE Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals. 17105336

2006
dbSNP: rs121918487
rs121918487
FGFR2
0.020 GeneticVariation BEFREE We have identified the recurrent mutation C342Y in two unrelated patients with Crouzon syndrome. 8650126

1996