rs1391540245
|
1.000 |
0.120 |
7 |
148118231 |
frameshift variant |
T/-
|
del
|
|
1.4E-05
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs149032771
|
1.000 |
0.120 |
7 |
147300272 |
stop gained |
G/A;T
|
snv
|
1.4E-04
|
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554400338
|
1.000 |
0.120 |
7 |
148172431 |
frameshift variant |
C/-
|
delins
|
|
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201076428
|
1.000 |
0.120 |
7 |
147639254 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs371642222
|
1.000 |
0.120 |
7 |
148217323 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs730880275
|
1.000 |
0.120 |
7 |
148383881 |
frameshift variant |
G/-
|
delins
|
|
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs730880276
|
1.000 |
0.120 |
7 |
147485934 |
splice acceptor variant |
G/T
|
snv
|
|
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs752550849
|
1.000 |
0.120 |
7 |
147300239 |
stop gained |
C/G;T
|
snv
|
1.2E-05
|
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs771827120
|
1.000 |
0.120 |
7 |
148383653 |
frameshift variant |
AG/-
|
del
|
|
7.0E-06
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554490549
|
1.000 |
0.120 |
7 |
147485951 |
stop gained |
TG/-
|
delins
|
|
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs398124268
|
1.000 |
0.120 |
7 |
147903619 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Pitt-Hopkins-Like Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |