rs1554552774, FGFR1

N. diseases: 2
Disease: Pfeiffer Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.700 CausalMutation CLINVAR Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003