FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Thanatophoric dysplasia, type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1300257
Disease:
Thanatophoric dysplasia, type 2 		G 0.700 CausalMutation CLINVAR