FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Dwarfism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1211533350
rs1211533350
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0013336
Disease:
Dwarfism 		0.010 GeneticVariation BEFREE Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood. 9672519 1998