rs139953766
|
1.000 |
0.160 |
2 |
148469905 |
missense variant |
C/A;T
|
snv
|
3.6E-05
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs139964770
|
1.000 |
0.160 |
2 |
148469325 |
missense variant |
G/A
|
snv
|
3.9E-04
|
4.1E-04
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs145475623
|
1.000 |
0.160 |
2 |
148489474 |
missense variant |
C/T
|
snv
|
4.8E-04
|
3.3E-04
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs1553517991
|
1.000 |
0.160 |
2 |
148463920 |
splice donor variant |
G/A
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs1553518402
|
1.000 |
0.160 |
2 |
148468374 |
missense variant |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs576930680
|
1.000 |
0.160 |
2 |
148469906 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs769330358
|
1.000 |
0.160 |
2 |
148483160 |
missense variant |
G/A
|
snv
|
1.2E-05
|
2.8E-05
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs1060501151
|
1.000 |
0.160 |
2 |
148512906 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1060501153
|
1.000 |
0.160 |
2 |
148470239 |
frameshift variant |
AACT/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553517984
|
1.000 |
0.160 |
2 |
148463901 |
frameshift variant |
A/-
|
del
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553518511
|
1.000 |
0.160 |
2 |
148468966 |
frameshift variant |
-/C
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553518752
|
1.000 |
0.160 |
2 |
148470263 |
frameshift variant |
C/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1553519853
|
1.000 |
0.160 |
2 |
148483222 |
frameshift variant |
C/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1559094754
|
1.000 |
0.160 |
2 |
148483177 |
frameshift variant |
ATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTT/-
|
del
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1559099927
|
1.000 |
0.160 |
2 |
148490566 |
stop gained |
C/A
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398122412
|
1.000 |
0.160 |
2 |
148462617 |
frameshift variant |
T/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs794727928
|
1.000 |
0.160 |
2 |
148463859 |
frameshift variant |
AAAAGCAT/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs796052719
|
1.000 |
0.160 |
2 |
148468830 |
frameshift variant |
TA/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs886041003
|
1.000 |
0.160 |
2 |
148468383 |
stop gained |
C/G
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 1
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|