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: rs587776582
rs587776582 		1.000 0.120 5 150398373 frameshift variant AAGAA/- delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 5 1997 2012
dbSNP: rs1554081112
rs1554081112 		1.000 0.120 5 150398365 frameshift variant GAAA/- delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 2 2002 2012
dbSNP: rs886041506
rs886041506 		1.000 0.120 5 150374812 splice donor variant G/A snv
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 2 1996 2012
dbSNP: rs1554081108
rs1554081108 		1.000 0.120 5 150398365 frameshift variant AA/- delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1057521108
rs1057521108 		1.000 0.120 5 150357796 missense variant A/G snv
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1064794474
rs1064794474 		1.000 0.120 5 150375120 frameshift variant ACAG/- delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs119470016
rs119470016 		1.000 0.120 5 150374288 stop gained C/T snv
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs119470017
rs119470017 		1.000 0.120 5 150388004 stop gained C/T snv
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554078461
rs1554078461 		1.000 0.120 5 150389971 frameshift variant -/G delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554080460
rs1554080460 		0.925 0.120 5 150396468 frameshift variant -/G delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554081168
rs1554081168 		1.000 0.120 5 150398416 frameshift variant CT/- delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554136123
rs1554136123 		1.000 0.120 5 150375029 frameshift variant -/C delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554137419
rs1554137419 		1.000 0.120 5 150376425 frameshift variant AA/- delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554137531
rs1554137531 		1.000 0.120 5 150376563 frameshift variant CT/- delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
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
dbSNP: rs1554138819
rs1554138819 		1.000 0.120 5 150379669 frameshift variant AG/- del
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1561540623
rs1561540623 		1.000 0.120 5 150396714 frameshift variant -/G delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1562347303
rs1562347303 		1.000 0.120 5 150375052 frameshift variant AG/- del
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs28941769
rs28941769 		1.000 0.120 5 150361196 missense variant A/G snv
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776580
rs587776580 		1.000 0.120 5 150368758 frameshift variant -/A delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776581
rs587776581 		1.000 0.120 5 150368834 frameshift variant ATAC/- del
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776583
rs587776583 		1.000 0.120 5 150375485 frameshift variant AGAG/-;AG delins 7.0E-06
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776584
rs587776584 		1.000 0.120 5 150367912 splice donor variant AAGGTGAGTGGGACTGCC/- delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776585
rs587776585 		1.000 0.120 5 150398369 frameshift variant AA/-;A;AAA delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs587777314
rs587777314 		1.000 0.120 5 150389946 frameshift variant -/G delins
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0