FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Brachycephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0221356
Disease:
Brachycephaly 		0.020 GeneticVariation BEFREE Suboptimal morphological and mental outcomes can be expected in patients with nonsyndromic brachycephaly who carry the FGFR3 P250R mutation. 12087222 2002
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0221356
Disease:
Brachycephaly 		0.020 GeneticVariation BEFREE Hence, while 68% of females carrying the P250R mutation showed brachycephaly, only 35% of males had the same phenotype. 9950359 1999