rs118203436
|
1.000 |
0.120 |
9 |
132921363 |
missense variant |
C/G;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2009 |
2017 |
rs75820036
|
1.000 |
0.120 |
9 |
132905618 |
stop gained |
G/A;C;T
|
snv
|
8.5E-04;
4.0E-06
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.800 |
1.000 |
6 |
1998 |
2017 |
rs118203345
|
1.000 |
0.120 |
9 |
132927229 |
missense variant |
A/C;G
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2013 |
2017 |
rs118203396
|
1.000 |
0.120 |
9 |
132921943 |
missense variant |
A/G
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.800 |
1.000 |
5 |
2013 |
2017 |
rs118203426
|
1.000 |
0.120 |
9 |
132921429 |
missense variant |
A/C;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs397514800
|
1.000 |
0.120 |
9 |
132903782 |
missense variant |
C/G
|
snv
|
4.0E-06
|
2.1E-05
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1997 |
2017 |
rs397514814
|
1.000 |
0.120 |
9 |
132901660 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1997 |
2017 |
rs397514840
|
1.000 |
0.120 |
9 |
132910603 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1997 |
2017 |
rs77464996
|
1.000 |
0.120 |
9 |
132910584 |
missense variant |
G/A;T
|
snv
|
2.4E-05;
4.0E-06
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
13 |
1997 |
2017 |
rs118203631
|
0.851 |
0.200 |
9 |
132903785 |
stop gained |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1997 |
2015 |
rs118203403
|
1.000 |
0.120 |
9 |
132921910 |
missense variant |
A/C;G;T
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs118203538
|
1.000 |
0.120 |
9 |
132906079 |
missense variant |
C/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs118203639
|
1.000 |
0.120 |
9 |
132903756 |
missense variant |
C/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs118203655
|
1.000 |
0.120 |
9 |
132903682 |
missense variant |
G/T
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs118203682
|
0.882 |
0.160 |
9 |
132902640 |
stop gained |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2006 |
rs397514784
|
1.000 |
0.120 |
9 |
132923461 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs397514802
|
1.000 |
0.120 |
9 |
132903766 |
missense variant |
A/C
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs397514843
|
1.000 |
0.120 |
9 |
132923480 |
missense variant |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs118203542
|
0.851 |
0.200 |
9 |
132906053 |
stop gained |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1997 |
2015 |
rs397514806
|
1.000 |
0.120 |
9 |
132896294 |
missense variant |
C/A;G
|
snv
|
8.0E-06
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1997 |
2012 |
rs397514808
|
1.000 |
0.120 |
9 |
132911475 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.8E-05
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1997 |
2012 |
rs397514859
|
1.000 |
0.120 |
9 |
132897227 |
missense variant |
G/C;T
|
snv
|
1.2E-05
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1997 |
2012 |
rs397514864
|
1.000 |
0.120 |
9 |
132911059 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1997 |
2012 |
rs118203427
|
0.882 |
0.200 |
9 |
132921418 |
stop gained |
G/A
|
snv
|
|
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1998 |
2005 |
rs118203342
|
1.000 |
0.120 |
9 |
132927258 |
missense variant |
T/G
|
snv
|
4.0E-06
|
7.0E-06
|
TUBEROUS SCLEROSIS 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2013 |
2017 |