FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Muenke Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909627
rs121909627 		0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 2004 2017