SCN1A, sodium voltage-gated channel alpha subunit 1, 6323
N. diseases: 287; N. variants: 533
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 2 | 165998049 | missense variant | G/T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 4 | 2005 | 2009 | ||||||||
|
0.851 | 0.120 | 2 | 165996099 | missense variant | A/G | snv | 7.0E-06 |
|
Nervous System Diseases | 0.800 | 1.000 | 4 | 2005 | 2009 | |||||||
|
1.000 | 0.040 | 2 | 165998047 | missense variant | C/G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 4 | 2005 | 2009 | ||||||||
|
0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2005 | 2009 | ||||||
|
0.851 | 0.080 | 2 | 166073371 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 2 | 165992341 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.080 | 2 | 166052869 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 2 | 166052882 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 2 | 165996047 | stop gained | G/A;C;T | snv | 2.0E-05 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 2 | 166043875 | stop gained | G/A;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 2 | 166037930 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.120 | 2 | 166054637 | splice donor variant | C/A;G;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 2 | 166044010 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 2 | 166052885 | missense variant | G/C | snv | 1.4E-05 |
|
Nervous System Diseases | 0.700 | 0 |