FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Abnormality of the skeletal system ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C4021790
Disease:
Abnormality of the skeletal system 		0.010 GeneticVariation BEFREE The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities. 28181399 2017