FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Cleft upper lip ×
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: rs13317
rs13317 		0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs397515445
rs397515445 		0.807 0.280 8 38414263 missense variant T/C snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2015 2015