Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918505
rs121918505
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010273
Disease:
Craniofacial Dysostosis
0.010 GeneticVariation BEFREE Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2. 31318164 2019