Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79184941
rs79184941
0.030 GeneticVariation BEFREE In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis. 15282208

2004

dbSNP: rs79184941
rs79184941
0.030 GeneticVariation BEFREE Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. 15310757

2004

dbSNP: rs79184941
rs79184941
0.030 GeneticVariation BEFREE Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes may play an important role in the occurrence of syndactyly. 9719378

1998