Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918497
rs121918497
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0175699
Disease:
Saethre-Chotzen Syndrome
0.010 GeneticVariation BEFREE Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity. 16526917 2006