SCN10A, sodium voltage-gated channel alpha subunit 10, 6336
N. diseases: 147; N. variants: 34
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 3 | 38736063 | intron variant | T/G | snv | 0.67 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.830 | 1.000 | 4 | 2013 | 2018 | |||||||
|
1.000 | 0.080 | 3 | 38725824 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
1.000 | 0.080 | 3 | 38733341 | intron variant | C/T | snv | 0.70 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
3 | 38729148 | intron variant | C/G | snv | 0.70 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
3 | 38742538 | intron variant | T/C | snv | 0.65 | 0.70 |
|
0.800 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
1.000 | 0.080 | 3 | 38757345 | intron variant | C/T | snv | 0.70 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 3 | 38752313 | missense variant | A/G | snv | 9.3E-05 | 9.8E-05 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 3 | 38725824 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 3 | 38712340 | missense variant | C/A;T | snv | 2.8E-05; 4.8E-05 |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 38730434 | intron variant | C/G | snv | 0.67 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 |
|
0.700 | 1.000 | 2 | 2010 | 2016 | |||||||
|
1.000 | 0.080 | 3 | 38725824 | intron variant | T/C | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 38738568 | intron variant | T/C | snv | 0.41 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 3 | 38708884 | intron variant | A/G | snv | 0.71 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 3 | 38746306 | intron variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
3 | 38723291 | intron variant | G/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.080 | 3 | 38697226 | 3 prime UTR variant | G/A | snv | 0.44 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 38754064 | intron variant | A/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 38754924 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 38754924 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1.000 | 0.080 | 3 | 38763097 | intron variant | C/T | snv | 0.74 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 3 | 38730434 | intron variant | C/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 38730434 | intron variant | C/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |