COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Cortical Congenital Hyperostosis ×
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: rs72645347
rs72645347 		0.790 0.280 17 50196337 missense variant G/A snv
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2007 2007