FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Kallmann Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1424371425
rs1424371425
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0162809
Disease:
Kallmann Syndrome 		0.010 GeneticVariation BEFREE Sequencing of FGFR1 gene, recently implicated in autosomal form of KS, was performed and one splicing mutation (IVS14 + 1G > A) was identified in one patient. 17530415 2008