Disease: Cerebrooculofacioskeletal Syndrome 1 ×
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: rs1386369933
rs1386369933 		0.882 0.400 10 49461463 frameshift variant -/G delins 7.0E-06
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1441655600
rs1441655600 		0.882 0.400 10 49482686 splice donor variant C/T snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554787554
rs1554787554 		0.882 0.400 10 49474243 splice acceptor variant C/T snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554789393
rs1554789393 		0.882 0.400 10 49493117 frameshift variant C/TT delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554793174
rs1554793174 		0.882 0.400 10 49524032 splice donor variant C/G snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554793305
rs1554793305 		1.000 0.160 10 49524426 frameshift variant A/- del
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554794073
rs1554794073 		0.882 0.400 10 49528527 splice acceptor variant T/C snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554794360
rs1554794360 		0.882 0.400 10 49530824 frameshift variant G/- delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554794620
rs1554794620 		0.882 0.400 10 49532705 frameshift variant GC/- delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554794640
rs1554794640 		0.882 0.400 10 49532751 frameshift variant G/- delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554794641
rs1554794641 		0.882 0.400 10 49532757 frameshift variant -/C delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554873950
rs1554873950 		0.882 0.400 10 49460371 splice donor variant A/T snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554873973
rs1554873973 		0.882 0.400 10 49460453 splice acceptor variant T/C snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554875114
rs1554875114 		0.882 0.400 10 49470181 splice donor variant C/G snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554875154
rs1554875154 		0.882 0.400 10 49470332 frameshift variant -/A delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554875155
rs1554875155 		0.882 0.400 10 49470346 frameshift variant T/- delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554875287
rs1554875287 		0.882 0.400 10 49470890 splice acceptor variant C/T snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554875522
rs1554875522 		0.882 0.400 10 49472908 splice donor variant C/T snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs373227647
rs373227647 		0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs376526037
rs376526037 		0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs577021605
rs577021605 		0.882 0.400 10 49532904 stop gained G/A snv
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs765825423
rs765825423 		0.882 0.400 10 49461382 frameshift variant CT/- del 2.0E-05 1.4E-05
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs768608345
rs768608345 		0.882 0.400 10 49500698 splice acceptor variant T/C snv 4.0E-06
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs774791374
rs774791374 		0.882 0.400 10 49482759 frameshift variant -/G delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786205170
rs786205170 		0.882 0.400 10 49470547 frameshift variant -/T delins
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0