rs587776447
|
1.000 |
0.200 |
10 |
122508741 |
missense variant |
T/C
|
snv
|
|
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs587776873
|
1.000 |
0.200 |
10 |
122506796 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
4.0E-06
|
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs60401382
|
|
|
10 |
122468108 |
intron variant |
C/T
|
snv
|
|
0.32
|
Cerebrovascular accident
|
Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs72834448
|
|
|
10 |
122472904 |
intron variant |
G/A
|
snv
|
|
9.0E-02
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs72834453
|
|
|
10 |
122475710 |
intron variant |
T/G
|
snv
|
|
0.11
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs772225907
|
1.000 |
|
10 |
122514264 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs11200638
|
0.724 |
0.280 |
10 |
122461028 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
|
|
0.700 |
|
0 |
|
|
rs11200638
|
0.724 |
0.280 |
10 |
122461028 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
Macular Degeneration, Age-Related, 7
|
Eye Diseases
|
0.700 |
|
0 |
|
|
rs113993970
|
0.925 |
0.240 |
10 |
122506817 |
stop gained |
C/T
|
snv
|
8.0E-06
|
3.5E-05
|
Cerebral Small Vessel Diseases
|
Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs113993970
|
0.925 |
0.240 |
10 |
122506817 |
stop gained |
C/T
|
snv
|
8.0E-06
|
3.5E-05
|
Personality Change
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs113993970
|
0.925 |
0.240 |
10 |
122506817 |
stop gained |
C/T
|
snv
|
8.0E-06
|
3.5E-05
|
Impaired cognition
|
Mental Disorders
|
0.700 |
|
0 |
|
|
rs113993970
|
0.925 |
0.240 |
10 |
122506817 |
stop gained |
C/T
|
snv
|
8.0E-06
|
3.5E-05
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1267457680
|
1.000 |
|
10 |
122506884 |
missense variant |
A/C;G
|
snv
|
|
7.0E-06
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
|
0 |
|
|
rs1273355332
|
1.000 |
|
10 |
122488972 |
frameshift variant |
T/-
|
del
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
|
0 |
|
|
rs1554948318
|
1.000 |
|
10 |
122462011 |
missense variant |
G/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
|
0 |
|
|
rs1554950655
|
1.000 |
|
10 |
122488965 |
missense variant |
T/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
|
0 |
|
|
rs1554952277
|
1.000 |
|
10 |
122506740 |
missense variant |
G/C
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
|
0 |
|
|
rs1554952291
|
1.000 |
|
10 |
122506778 |
stop gained |
C/T
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
|
0 |
|
|
rs201305795
|
1.000 |
|
10 |
122489616 |
missense variant |
T/C
|
snv
|
1.2E-05
|
7.0E-06
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
|
0 |
|
|
rs587776448
|
1.000 |
0.200 |
10 |
122461778 |
frameshift variant |
G/-
|
del
|
|
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587776449
|
1.000 |
0.200 |
10 |
122506874 |
missense variant |
G/A
|
snv
|
7.2E-05
|
9.8E-05
|
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs864622783
|
1.000 |
|
10 |
122507369 |
splice acceptor variant |
G/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
|
|
0.700 |
|
0 |
|
|
rs11200638
|
0.724 |
0.280 |
10 |
122461028 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.100 |
0.875 |
16 |
2007 |
2017 |
rs11200638
|
0.724 |
0.280 |
10 |
122461028 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
Polypoidal choroidal vasculopathy
|
|
0.100 |
0.900 |
10 |
2007 |
2016 |
rs11200638
|
0.724 |
0.280 |
10 |
122461028 |
non coding transcript exon variant |
G/A
|
snv
|
|
0.23
|
Geographic Atrophy
|
Eye Diseases
|
0.040 |
1.000 |
4 |
2007 |
2012 |