rs1553760900
|
1.000 |
0.280 |
3 |
167695669 |
stop gained |
G/A
|
snv
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs11714980
|
1.000 |
0.200 |
3 |
167735203 |
upstream gene variant |
T/C
|
snv
|
|
0.27
|
Cavernous Hemangioma of Brain
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs9853967
|
1.000 |
0.200 |
3 |
167735251 |
5 prime UTR variant |
T/A;C;G
|
snv
|
|
|
Cavernous Hemangioma of Brain
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1303470125
|
1.000 |
0.280 |
3 |
167695690 |
stop gained |
G/A;C
|
snv
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553759042
|
1.000 |
0.280 |
3 |
167687227 |
splice donor variant |
ACTT/-
|
delins
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553759059
|
1.000 |
0.280 |
3 |
167687281 |
stop gained |
G/C
|
snv
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553761266
|
1.000 |
0.280 |
3 |
167697114 |
frameshift variant |
CTTT/-
|
delins
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1559941951
|
1.000 |
0.280 |
3 |
167684371 |
frameshift variant |
-/A
|
delins
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1559952317
|
1.000 |
0.280 |
3 |
167695657 |
frameshift variant |
-/T
|
delins
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057517786
|
0.925 |
0.400 |
3 |
167704889 |
stop gained |
G/A
|
snv
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
5 |
2005 |
2016 |
rs1057517786
|
0.925 |
0.400 |
3 |
167704889 |
stop gained |
G/A
|
snv
|
|
|
Cavernous Hemangioma of Brain
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1057517786
|
0.925 |
0.400 |
3 |
167704889 |
stop gained |
G/A
|
snv
|
|
|
Congenital Abnormality
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1553759139
|
0.925 |
0.400 |
3 |
167687610 |
splice region variant |
C/T
|
snv
|
|
|
Hemangioma, Cavernous
|
Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553759139
|
0.925 |
0.400 |
3 |
167687610 |
splice region variant |
C/T
|
snv
|
|
|
Hemiparesis
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553759139
|
0.925 |
0.400 |
3 |
167687610 |
splice region variant |
C/T
|
snv
|
|
|
Cerebral Cavernous Malformations 3
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553759139
|
0.925 |
0.400 |
3 |
167687610 |
splice region variant |
C/T
|
snv
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553759139
|
0.925 |
0.400 |
3 |
167687610 |
splice region variant |
C/T
|
snv
|
|
|
Arteriovenous Malformations, Cerebral
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|