rs77543610, FGFR2

N. diseases: 28
Disease: Ramer Ladda syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ramer Ladda syndrome
CUI: C2930865
Disease: Ramer Ladda syndrome
0.010 GeneticVariation BEFREE Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. 15041782 2003