SCN1B, sodium voltage-gated channel beta subunit 1, 6324
N. diseases: 114; N. variants: 17
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.800 | 1.000 | 3 | 1998 | 2011 | |||||||
|
0.882 | 0.040 | 19 | 35033664 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.807 | 0.160 | 19 | 35033545 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.800 | 0 | ||||||||||
|
0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 1998 | 2016 | |||||||
|
0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 1970 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 35033665 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 1998 | 2011 | ||||||||
|
1.000 | 0.040 | 19 | 35039140 | missense variant | G/A;C | snv | 2.0E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 19 | 35039125 | missense variant | G/A | snv | 6.0E-05 | 8.4E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
19 | 35033599 | missense variant | A/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 19 | 35033550 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 19 | 35033545 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 19 | 35033545 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.160 | 19 | 35033545 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
19 | 35034042 | missense variant | G/A | snv | 6.5E-06 |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 19 | 35033827 | stop gained | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 19 | 35033828 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 35033497 | splice acceptor variant | A/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 35033544 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.040 | 19 | 35033607 | missense variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.040 | 19 | 35033664 | missense variant | C/T | snv | 7.0E-06 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.882 | 0.040 | 19 | 35033664 | missense variant | C/T | snv | 7.0E-06 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |