rs121918497, FGFR2

N. diseases: 8
Disease: Craniofacial Dysostosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
0.010 GeneticVariation BEFREE Using the published primers for PCR, a patient with Crouzon syndrome was found to be homozygous for a mutation that results in a Q289P amino acid substitution in FGFR2. 11484208 2001