rs193922906
|
0.882 |
0.160 |
20 |
4699380 |
inframe insertion |
TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC
|
delins
|
|
|
Prion Diseases
|
Infections; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs193922906
|
0.882 |
0.160 |
20 |
4699380 |
inframe insertion |
TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC
|
delins
|
|
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs193922906
|
0.882 |
0.160 |
20 |
4699380 |
inframe insertion |
TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC
|
delins
|
|
|
HUNTINGTON DISEASE-LIKE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
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 |
|
|
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 |
rs28933385
|
0.695 |
0.320 |
20 |
4699818 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.900 |
1.000 |
44 |
1990 |
2019 |
rs74315403
|
0.790 |
0.200 |
20 |
4699752 |
missense variant |
G/A
|
snv
|
|
|
Fatal Familial Insomnia
|
Infections; Nervous System Diseases
|
0.800 |
0.972 |
36 |
1992 |
2019 |
rs74315408
|
0.752 |
0.280 |
20 |
4699758 |
missense variant |
G/A
|
snv
|
6.4E-05
|
4.2E-05
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.900 |
1.000 |
27 |
1990 |
2019 |
rs28933385
|
0.695 |
0.320 |
20 |
4699818 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
HUNTINGTON DISEASE-LIKE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
1.000 |
22 |
1989 |
2016 |
rs74315403
|
0.790 |
0.200 |
20 |
4699752 |
missense variant |
G/A
|
snv
|
|
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.800 |
0.955 |
22 |
1990 |
2015 |
rs74315402
|
0.882 |
0.200 |
20 |
4699570 |
missense variant |
C/T
|
snv
|
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1993 |
2018 |
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 |
rs28933385
|
0.695 |
0.320 |
20 |
4699818 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Prion Diseases
|
Infections; Nervous System Diseases
|
0.800 |
0.944 |
18 |
1995 |
2019 |
rs74315407
|
0.732 |
0.240 |
20 |
4699848 |
missense variant |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.870 |
1.000 |
18 |
1990 |
2016 |
rs74315409
|
0.742 |
0.240 |
20 |
4699915 |
missense variant |
T/G
|
snv
|
6.0E-05
|
2.1E-05
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.770 |
1.000 |
18 |
1990 |
2013 |
rs74315412
|
0.851 |
0.120 |
20 |
4699843 |
missense variant |
G/A
|
snv
|
6.0E-05
|
3.5E-05
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.750 |
1.000 |
16 |
1990 |
2014 |
rs28933385
|
0.695 |
0.320 |
20 |
4699818 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Creutzfeldt-Jakob Disease, Familial
|
Infections; Nervous System Diseases; Mental Disorders
|
0.100 |
1.000 |
15 |
1996 |
2017 |
rs74315401
|
0.683 |
0.320 |
20 |
4699525 |
missense variant |
C/T
|
snv
|
|
|
Prion Diseases
|
Infections; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1999 |
2019 |
rs1799990
|
0.683 |
0.440 |
20 |
4699605 |
missense variant |
A/G
|
snv
|
0.31
|
0.33
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.900 |
1.000 |
14 |
1996 |
2015 |
rs74315403
|
0.790 |
0.200 |
20 |
4699752 |
missense variant |
G/A
|
snv
|
|
|
Prion Diseases
|
Infections; Nervous System Diseases
|
0.800 |
1.000 |
14 |
2002 |
2019 |
rs398122370
|
0.925 |
0.160 |
20 |
4699851 |
missense variant |
G/C
|
snv
|
|
|
Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.830 |
1.000 |
13 |
1990 |
2010 |
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 |