Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909631
rs121909631
CUI: C0039144
Disease: Syringomyelia
Syringomyelia
0.010 GeneticVariation BEFREE A novel FGFR2 mutation, Tyr281Cys, was found in familial Crouzon syndrome with Chiari I and syringomyelia. 12186468

2002