rs137852983
|
1.000 |
0.280 |
2 |
144389740 |
missense variant |
T/C
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
5 |
2001 |
2011 |
rs727503784
|
1.000 |
0.280 |
2 |
144429811 |
frameshift variant |
A/-
|
del
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
1991 |
2008 |
rs137852981
|
0.752 |
0.480 |
2 |
144399104 |
stop gained |
G/A
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs1560607925
|
1.000 |
0.280 |
2 |
144401309 |
splice acceptor variant |
T/C
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1560618505
|
1.000 |
0.280 |
2 |
144424848 |
stop gained |
A/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs398124282
|
1.000 |
0.280 |
2 |
144517276 |
splice donor variant |
A/G
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1060500653
|
1.000 |
0.280 |
2 |
144390001 |
frameshift variant |
C/-
|
del
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs111724246
|
1.000 |
0.280 |
2 |
144404063 |
stop gained |
G/C;T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1135401790
|
1.000 |
0.280 |
2 |
144389926 |
missense variant |
C/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1135402759
|
1.000 |
0.280 |
2 |
144389932 |
missense variant |
T/C
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs137852980
|
1.000 |
0.280 |
2 |
144399542 |
stop gained |
T/A;G
|
snv
|
4.0E-06
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs137852982
|
1.000 |
0.280 |
2 |
144398632 |
stop gained |
G/A;C
|
snv
|
4.0E-06
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1423851170
|
1.000 |
0.280 |
2 |
144389896 |
stop gained |
G/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553960788
|
1.000 |
0.280 |
2 |
144389978 |
missense variant |
G/A
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553960793
|
1.000 |
0.280 |
2 |
144389987 |
stop gained |
T/A
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961332
|
1.000 |
0.280 |
2 |
144396456 |
missense variant |
A/C
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961487
|
1.000 |
0.280 |
2 |
144398381 |
frameshift variant |
C/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961510
|
1.000 |
0.280 |
2 |
144398498 |
frameshift variant |
-/T
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961580
|
1.000 |
0.280 |
2 |
144398960 |
frameshift variant |
A/-
|
del
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961585
|
1.000 |
0.280 |
2 |
144398972 |
frameshift variant |
-/GGAG
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961598
|
1.000 |
0.280 |
2 |
144399034 |
stop gained |
-/TGGGAGCTAACGGCTTGGAGCTTCTTTCCAGGGATGGGGACCTGGAATTTGAGTACTGGTAGACTTTTCGTTGTTCAAACCATTCCTTCACAAATTCCTGAGGAAGGCCCACAGC
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961610
|
1.000 |
0.280 |
2 |
144399115 |
stop gained |
C/T
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961695
|
1.000 |
0.280 |
2 |
144399645 |
frameshift variant |
-/T
|
ins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961702
|
1.000 |
0.280 |
2 |
144399698 |
stop gained |
G/A
|
snv
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553961747
|
1.000 |
0.280 |
2 |
144400019 |
frameshift variant |
T/-
|
delins
|
|
|
Mowat-Wilson syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|