FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Kallmann Syndrome 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs515726225
rs515726225
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		A 0.700 CausalMutation CLINVAR Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 24204987 2013