Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs981703846
rs981703846
FGFR1
0.030 GeneticVariation BEFREE Here, we report a novel mutation in exon 8 (IIIc) of FGFR3, p.Ala334Thr, in a young boy with mild craniosynostosis. 22038757

2011
dbSNP: rs981703846
rs981703846
FGFR1
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: rs981703846
rs981703846
FGFR1
0.030 GeneticVariation BEFREE A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? 10951518

2000