rs777751303
|
0.882 |
0.120 |
19 |
15187126 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
MYOFIBROMATOSIS, INFANTILE, 2
|
|
0.700 |
|
0 |
|
|
rs777751303
|
0.882 |
0.120 |
19 |
15187126 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045014
|
0.851 |
0.160 |
19 |
15192182 |
missense variant |
G/A;T
|
snv
|
|
|
Transient Cerebral Ischemia
|
Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs797045014
|
0.851 |
0.160 |
19 |
15192182 |
missense variant |
G/A;T
|
snv
|
|
|
Ischemic stroke
|
Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs864621964
|
1.000 |
|
19 |
15197510 |
missense variant |
C/T
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
|
0 |
|
|
rs864621965
|
1.000 |
|
19 |
15191789 |
inframe deletion |
CATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACG/-
|
delins
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
|
0 |
|
|
rs864621966
|
1.000 |
|
19 |
15184451 |
splice acceptor variant |
C/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
|
0 |
|
|
rs201118034
|
0.827 |
0.200 |
19 |
15187315 |
missense variant |
G/A;C
|
snv
|
3.2E-04;
4.0E-06
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
29 |
1997 |
2015 |
rs1555729604
|
0.925 |
0.160 |
19 |
15192449 |
missense variant |
G/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
24 |
1997 |
2014 |
rs1555727942
|
0.925 |
0.160 |
19 |
15180807 |
missense variant |
G/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
23 |
1997 |
2015 |
rs137852641
|
0.925 |
0.160 |
19 |
15191466 |
missense variant |
G/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
22 |
1997 |
2014 |
rs201680145
|
0.882 |
0.200 |
19 |
15179052 |
missense variant |
G/A;T
|
snv
|
8.9E-04
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
22 |
1997 |
2014 |
rs267606915
|
1.000 |
|
19 |
15189085 |
missense variant |
A/T
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
22 |
1997 |
2014 |
rs28933696
|
0.882 |
0.160 |
19 |
15192134 |
missense variant |
G/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
22 |
1997 |
2014 |
rs28933697
|
1.000 |
|
19 |
15192095 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
22 |
1997 |
2014 |
rs28933698
|
0.882 |
0.160 |
19 |
15189004 |
missense variant |
A/G
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
22 |
1997 |
2014 |
rs28937321
|
1.000 |
|
19 |
15192504 |
missense variant |
C/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
22 |
1997 |
2014 |
rs75068032
|
0.851 |
0.160 |
19 |
15187273 |
missense variant |
G/A;C;T
|
snv
|
2.4E-05;
5.2E-05
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
22 |
1997 |
2014 |
rs1167405466
|
1.000 |
|
19 |
15180761 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
1.000 |
20 |
1997 |
2013 |
rs1209610920
|
1.000 |
|
19 |
15178878 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
1.000 |
20 |
1997 |
2013 |
rs137852642
|
0.827 |
0.200 |
19 |
15192242 |
missense variant |
G/A;T
|
snv
|
4.5E-06;
4.5E-06
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
1.000 |
20 |
1997 |
2013 |
rs1555728814
|
1.000 |
|
19 |
15187299 |
missense variant |
C/T
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
1.000 |
20 |
1997 |
2013 |
rs1555729068
|
1.000 |
|
19 |
15189106 |
missense variant |
G/A
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
1.000 |
20 |
1997 |
2013 |
rs1555729451
|
1.000 |
|
19 |
15191968 |
missense variant |
C/T
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
1.000 |
20 |
1997 |
2013 |
rs1555729452
|
1.000 |
|
19 |
15191974 |
missense variant |
C/T
|
snv
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.700 |
1.000 |
20 |
1997 |
2013 |