SCN9A, sodium voltage-gated channel alpha subunit 9, 6335
N. diseases: 213; N. variants: 70
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 166228902 | stop gained | C/T | snv |
|
0.700 | 1.000 | 21 | 1995 | 2016 | |||||||||||
|
0.925 | 0.040 | 2 | 166277252 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.810 | 1.000 | 12 | 2004 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 166304279 | missense variant | A/G | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 11 | 2004 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 166303270 | missense variant | A/T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 11 | 2004 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 166288566 | missense variant | G/A;C;T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 11 | 2004 | 2014 | ||||||||
|
0.925 | 0.040 | 2 | 166277281 | missense variant | A/G | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 11 | 2004 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 166277251 | missense variant | A/T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 11 | 2004 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 166226587 | missense variant | A/C | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 11 | 2004 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 166228971 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166228972 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
0.882 | 0.120 | 2 | 166228969 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||||||
|
0.882 | 0.120 | 2 | 166228969 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||||||
|
0.882 | 0.120 | 2 | 166228969 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166204448 | missense variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166204439 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166204446 | missense variant | A/C | snv |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 3 | 2006 | 2015 | ||||||||
|
0.925 | 0.120 | 2 | 166288553 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.925 | 0.120 | 2 | 166288553 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.120 | 2 | 166277134 | stop gained | C/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2006 | 2007 | |||||||
|
0.925 | 0.120 | 2 | 166284785 | stop gained | G/A | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 1979 | 1979 | |||||||
|
0.925 | 0.120 | 2 | 166284785 | stop gained | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 1979 | 1979 | |||||||
|
1.000 | 0.040 | 2 | 166199771 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.810 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
2 | 166325017 | intron variant | A/G | snv | 0.15 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 2 | 166199288 | frameshift variant | T/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 2 | 166199288 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 |