rs1555782101
|
1.000 |
|
20 |
4699709 |
stop gained |
C/G
|
snv
|
|
|
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
|
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
rs398122414
|
0.925 |
0.120 |
20 |
4699898 |
stop gained |
C/A
|
snv
|
|
|
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
|
|
0.700 |
|
0 |
|
|
rs74315406
|
0.851 |
0.160 |
20 |
4699870 |
missense variant |
A/G
|
snv
|
|
|
Prion Diseases
|
Infections; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs74315407
|
0.732 |
0.240 |
20 |
4699848 |
missense variant |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
HUNTINGTON DISEASE-LIKE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs74315412
|
0.851 |
0.120 |
20 |
4699843 |
missense variant |
G/A
|
snv
|
6.0E-05
|
3.5E-05
|
Prion Diseases
|
Infections; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs74315413
|
0.807 |
0.160 |
20 |
4699780 |
missense variant |
A/G
|
snv
|
|
|
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases; Mental Disorders
|
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 |
|
|
rs74315414
|
0.882 |
0.200 |
20 |
4699533 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases; Mental Disorders
|
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 |
|
|
rs80356710
|
0.925 |
0.040 |
20 |
4699655 |
stop gained |
T/G
|
snv
|
|
|
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
|
|
0.700 |
|
0 |
|
|
rs80356711
|
1.000 |
|
20 |
4699698 |
stop gained |
C/T
|
snv
|
|
|
Prion Diseases
|
Infections; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356711
|
1.000 |
|
20 |
4699698 |
stop gained |
C/T
|
snv
|
|
|
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
|
|
0.700 |
|
0 |
|
|
rs74315401
|
0.683 |
0.320 |
20 |
4699525 |
missense variant |
C/T
|
snv
|
|
|
Peripheral Neuropathy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
1996 |
1996 |
rs74315401
|
0.683 |
0.320 |
20 |
4699525 |
missense variant |
C/T
|
snv
|
|
|
Myopathy
|
Musculoskeletal Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1996 |
1996 |
rs74315401
|
0.683 |
0.320 |
20 |
4699525 |
missense variant |
C/T
|
snv
|
|
|
Peripheral Nervous System Diseases
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
1996 |
1996 |
rs74315409
|
0.742 |
0.240 |
20 |
4699915 |
missense variant |
T/G
|
snv
|
6.0E-05
|
2.1E-05
|
Rapidly progressive dementia
|
Nervous System Diseases; Mental Disorders
|
0.010 |
1.000 |
1 |
1996 |
1996 |
rs74315401
|
0.683 |
0.320 |
20 |
4699525 |
missense variant |
C/T
|
snv
|
|
|
Other Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.010 |
1.000 |
1 |
1998 |
1998 |
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 |
rs74315405
|
0.827 |
0.160 |
20 |
4699813 |
missense variant |
T/C
|
snv
|
|
|
Other Creutzfeldt-Jakob disease
|
Infections; Nervous System Diseases; Mental Disorders
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs74315405
|
0.827 |
0.160 |
20 |
4699813 |
missense variant |
T/C
|
snv
|
|
|
Creutzfeldt-Jakob Disease, Sporadic
|
Infections; Nervous System Diseases; Mental Disorders
|
0.010 |
1.000 |
1 |
1998 |
1998 |