rs570952151
|
1.000 |
0.160 |
16 |
4802381 |
splice donor variant |
C/G;T
|
snv
|
|
7.0E-06
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs1060502981
|
1.000 |
0.160 |
16 |
4801587 |
splice acceptor variant |
T/C
|
snv
|
|
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1039568775
|
1.000 |
0.160 |
16 |
4797967 |
frameshift variant |
-/C
|
delins
|
|
2.1E-05
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1555491350
|
1.000 |
0.160 |
16 |
4799778 |
stop gained |
G/A
|
snv
|
|
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs387907145
|
0.695 |
0.440 |
16 |
4800548 |
stop gained |
G/A
|
snv
|
|
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs387907146
|
1.000 |
0.160 |
16 |
4798631 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs749657986
|
1.000 |
0.160 |
16 |
4798564 |
splice region variant |
C/A;G;T
|
snv
|
6.2E-06
|
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs764899074
|
1.000 |
0.160 |
16 |
4801292 |
frameshift variant |
AG/-
|
delins
|
8.1E-06
|
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs786205119
|
1.000 |
0.160 |
16 |
4798186 |
splice acceptor variant |
T/A
|
snv
|
|
7.0E-06
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs786205124
|
0.701 |
0.400 |
16 |
4798593 |
frameshift variant |
G/-;GGG
|
delins
|
|
3.5E-05
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs786205125
|
1.000 |
0.160 |
16 |
4802483 |
non coding transcript exon variant |
CCCCGCCG/-;CCCCGCCGCCCCGCCG
|
delins
|
|
1.4E-05
|
Kohlschutter Tonz syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|