rs1555725043
|
1.000 |
0.120 |
19 |
15161051 |
frameshift variant |
GTCCCGGCGCCAGTGGCAGCAGGAACGAGGGGCCTGGAGGGGCAGGTGGGGGCAGCCGGGCCCAATCGAGGGGCACAGCC/-
|
del
|
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs773656789
|
1.000 |
0.120 |
19 |
15160936 |
frameshift variant |
G/-;GG
|
delins
|
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs796065045
|
1.000 |
0.120 |
19 |
15161381 |
stop gained |
T/A
|
snv
|
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312909
|
1.000 |
0.120 |
19 |
15161142 |
frameshift variant |
CCCAGGCTGAGTACACATCCTCCAGG/-
|
delins
|
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312910
|
1.000 |
0.120 |
19 |
15160896 |
stop gained |
G/T
|
snv
|
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312911
|
1.000 |
0.120 |
19 |
15160965 |
stop gained |
G/C
|
snv
|
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1236699193
|
0.882 |
0.120 |
19 |
15192202 |
missense variant |
C/A;T
|
snv
|
4.1E-06
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555727841
|
0.882 |
0.120 |
19 |
15180103 |
missense variant |
C/T
|
snv
|
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201118034
|
0.827 |
0.200 |
19 |
15187315 |
missense variant |
G/A;C
|
snv
|
3.2E-04;
4.0E-06
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs75068032
|
0.851 |
0.160 |
19 |
15187273 |
missense variant |
G/A;C;T
|
snv
|
2.4E-05;
5.2E-05
|
|
LATERAL MENINGOCELE SYNDROME
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs775267348
|
0.882 |
0.120 |
19 |
15192020 |
missense variant |
G/A
|
snv
|
8.0E-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 |
|
|
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 |
|
|