FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Delayed Puberty ×
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: rs121909636
rs121909636 		0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0