FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Osteochondrodysplasias ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78311289
rs78311289
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0029422
Disease:
Osteochondrodysplasias 		0.020 GeneticVariation BEFREE Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903 2007
dbSNP: rs78311289
rs78311289
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0029422
Disease:
Osteochondrodysplasias 		0.020 GeneticVariation BEFREE One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia. 11314002 2001