rs121917902
|
0.790 |
0.440 |
10 |
49524073 |
stop gained |
G/A
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2008 |
2011 |
rs875989810
|
0.851 |
0.400 |
10 |
49528426 |
stop gained |
C/A
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2015 |
2017 |
rs121917905
|
1.000 |
0.160 |
10 |
49471085 |
missense variant |
A/C;G
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs1554787509
|
0.882 |
0.400 |
10 |
49474065 |
stop gained |
G/A
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1554788393
|
0.882 |
0.240 |
10 |
49482818 |
missense variant |
T/C
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs1554793270
|
0.882 |
0.400 |
10 |
49524295 |
stop gained |
C/A
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1554874073
|
0.882 |
0.400 |
10 |
49461378 |
frameshift variant |
C/-
|
delins
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs786205171
|
0.882 |
0.400 |
10 |
49470424 |
frameshift variant |
T/-
|
del
|
|
1.4E-05
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs786205172
|
0.882 |
0.400 |
10 |
49470352 |
frameshift variant |
-/AAGGTGGACCTTAAGCAGCCAGCCCT
|
delins
|
|
7.0E-06
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1254008304
|
0.882 |
0.400 |
10 |
49524649 |
frameshift variant |
-/GG
|
delins
|
|
7.0E-06
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1362935450
|
0.882 |
0.400 |
10 |
49478353 |
splice donor variant |
C/T
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1386369933
|
0.882 |
0.400 |
10 |
49461463 |
frameshift variant |
-/G
|
delins
|
|
7.0E-06
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1441655600
|
0.882 |
0.400 |
10 |
49482686 |
splice donor variant |
C/T
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554787554
|
0.882 |
0.400 |
10 |
49474243 |
splice acceptor variant |
C/T
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554789393
|
0.882 |
0.400 |
10 |
49493117 |
frameshift variant |
C/TT
|
delins
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554793174
|
0.882 |
0.400 |
10 |
49524032 |
splice donor variant |
C/G
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554793305
|
1.000 |
0.160 |
10 |
49524426 |
frameshift variant |
A/-
|
del
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554794073
|
0.882 |
0.400 |
10 |
49528527 |
splice acceptor variant |
T/C
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554794360
|
0.882 |
0.400 |
10 |
49530824 |
frameshift variant |
G/-
|
delins
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554794620
|
0.882 |
0.400 |
10 |
49532705 |
frameshift variant |
GC/-
|
delins
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554794640
|
0.882 |
0.400 |
10 |
49532751 |
frameshift variant |
G/-
|
delins
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554794641
|
0.882 |
0.400 |
10 |
49532757 |
frameshift variant |
-/C
|
delins
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554873950
|
0.882 |
0.400 |
10 |
49460371 |
splice donor variant |
A/T
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554873973
|
0.882 |
0.400 |
10 |
49460453 |
splice acceptor variant |
T/C
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554875114
|
0.882 |
0.400 |
10 |
49470181 |
splice donor variant |
C/G
|
snv
|
|
|
Cerebrooculofacioskeletal Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|