TCOF1, treacle ribosome biogenesis factor 1, 6949

N. diseases: 138; N. variants: 30
Disease: Mandibulofacial Dysostosis ×
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: rs1554138811
rs1554138811 		1.000 0.120 5 150379668 stop gained C/G snv
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0