rs121918491, FGFR2

N. diseases: 15
Disease: Axenfeld anomaly (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Axenfeld anomaly (disorder)
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
0.010 GeneticVariation BEFREE A child with a different FGFR2 mutation (p.Ala344Ala, c1032 G --> A heterozygote), premature fusion of the sagittal suture, and an Axenfeld-Rieger anomaly but otherwise normal clinical course is reported. 16158432 2005