Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918504
rs121918504
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: rs121918504
rs121918504
0.030 GeneticVariation BEFREE A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. 12357470

2002

dbSNP: rs121918504
rs121918504
0.030 GeneticVariation BEFREE A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? 10951518

2000