IGF1R, insulin like growth factor 1 receptor, 3480

N. diseases: 422; N. variants: 24
Disease: Dwarfism ×
Source: BEFREE ×
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: rs33958176
rs33958176 		1.000 0.120 15 98911384 missense variant G/A snv 1.6E-03 1.7E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007