rs28931615, FGFR3

N. diseases: 13
Disease: Achondroplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.010 GeneticVariation BEFREE Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients. 11426459 2001