FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Osteoglophonic dwarfism ×
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: rs121909631
rs121909631 		0.827 0.280 8 38419696 missense variant T/C snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2005 2006
dbSNP: rs121909632
rs121909632 		1.000 0.080 8 38421889 missense variant T/A;C snv 4.0E-06
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2005 2006
dbSNP: rs121909634
rs121909634 		1.000 0.080 8 38419676 missense variant A/G snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 2005 2006
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0