rs17852079
|
1.000 |
0.120 |
20 |
4699899 |
stop gained |
C/A;T
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2010 |
2010 |
rs398122414
|
0.925 |
0.120 |
20 |
4699898 |
stop gained |
C/A
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs74315401
|
0.683 |
0.320 |
20 |
4699525 |
missense variant |
C/T
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.900 |
0.979 |
47 |
1989 |
2019 |
rs74315405
|
0.827 |
0.160 |
20 |
4699813 |
missense variant |
T/C
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.880 |
1.000 |
19 |
1989 |
2019 |
rs74315410
|
1.000 |
0.120 |
20 |
4699612 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.830 |
1.000 |
13 |
1989 |
2019 |
rs74315413
|
0.807 |
0.160 |
20 |
4699780 |
missense variant |
A/G
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.820 |
1.000 |
13 |
1989 |
2018 |
rs761807915
|
0.925 |
0.120 |
20 |
4699824 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.720 |
1.000 |
13 |
1989 |
2013 |
rs74315406
|
0.851 |
0.160 |
20 |
4699870 |
missense variant |
A/G
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.810 |
1.000 |
12 |
1989 |
2010 |
rs751882709
|
0.925 |
0.160 |
20 |
4699855 |
missense variant |
A/C
|
snv
|
1.6E-05
|
2.8E-05
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.700 |
1.000 |
11 |
1989 |
2010 |
rs74315402
|
0.882 |
0.200 |
20 |
4699570 |
missense variant |
C/T
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.780 |
1.000 |
8 |
1997 |
2019 |
rs11538758
|
0.882 |
0.160 |
20 |
4699534 |
missense variant |
C/A;T
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.760 |
1.000 |
6 |
1999 |
2018 |
rs1800014
|
0.776 |
0.200 |
20 |
4699875 |
missense variant |
G/A
|
snv
|
8.0E-03
|
2.2E-03
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.020 |
1.000 |
2 |
1997 |
2015 |
rs28933385
|
0.695 |
0.320 |
20 |
4699818 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1999 |
1999 |
rs398122370
|
0.925 |
0.160 |
20 |
4699851 |
missense variant |
G/C
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs74315403
|
0.790 |
0.200 |
20 |
4699752 |
missense variant |
G/A
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs74315408
|
0.752 |
0.280 |
20 |
4699758 |
missense variant |
G/A
|
snv
|
6.4E-05
|
4.2E-05
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs74315409
|
0.742 |
0.240 |
20 |
4699915 |
missense variant |
T/G
|
snv
|
6.0E-05
|
2.1E-05
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs398122413
|
1.000 |
0.120 |
20 |
4699853 |
missense variant |
G/C
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs74315414
|
0.882 |
0.200 |
20 |
4699533 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs74315415
|
1.000 |
0.120 |
20 |
4699618 |
missense variant |
C/T
|
snv
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs193922906
|
0.882 |
0.160 |
20 |
4699380 |
inframe insertion |
TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC
|
delins
|
|
|
Gerstmann-Straussler-Scheinker Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases
|
0.700 |
|
0 |
|
|