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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
Nervous System Diseases | 0.900 | 0.996 | 260 | 2005 | 2020 | ||||||
|
0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 |
|
Nervous System Diseases | 0.900 | 0.925 | 53 | 2006 | 2019 | ||||||
|
0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 |
|
Digestive System Diseases | 0.820 | 1.000 | 3 | 2008 | 2013 | |||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.810 | 1.000 | 7 | 2005 | 2015 | |||||||
|
0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 |
|
0.800 | 1.000 | 28 | 2004 | 2018 | ||||||||
|
1.000 | 12 | 40299125 | missense variant | A/G | snv |
|
0.800 | 1.000 | 21 | 2004 | 2018 | ||||||||||
|
0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 |
|
0.800 | 1.000 | 21 | 2004 | 2018 | ||||||||
|
0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv |
|
0.800 | 1.000 | 21 | 2004 | 2018 | |||||||||
|
0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv |
|
0.800 | 1.000 | 21 | 2004 | 2018 | |||||||||
|
1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 |
|
Nervous System Diseases | 0.800 | 1.000 | 4 | 2011 | 2014 | |||||||
|
1.000 | 0.040 | 12 | 40259708 | intron variant | G/A | snv | 2.4E-03 |
|
Nervous System Diseases | 0.800 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
Nervous System Diseases | 0.720 | 1.000 | 10 | 2004 | 2018 | ||||||
|
0.925 | 0.080 | 12 | 40220632 | intron variant | C/T | snv | 0.13 |
|
Nervous System Diseases | 0.710 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 |
|
0.710 | 1.000 | 2 | 2007 | 2016 | ||||||||
|
1.000 | 12 | 40322047 | missense variant | G/A;T | snv | 8.0E-06; 3.6E-05 |
|
0.700 | 1.000 | 21 | 2004 | 2018 | |||||||||
|
0.925 | 0.040 | 12 | 40308618 | missense variant | A/G | snv | 8.6E-04 | 5.8E-04 |
|
0.700 | 1.000 | 21 | 2004 | 2018 | |||||||
|
1.000 | 12 | 40278154 | missense variant | A/G | snv |
|
0.700 | 1.000 | 21 | 2004 | 2018 | ||||||||||
|
1.000 | 12 | 40351585 | missense variant | G/A | snv | 5.2E-05 | 9.1E-05 |
|
0.700 | 1.000 | 21 | 2004 | 2018 | ||||||||
|
0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 |
|
0.700 | 1.000 | 21 | 2004 | 2018 | |||||||
|
0.925 | 0.040 | 12 | 40284011 | missense variant | G/A;T | snv | 4.0E-06; 1.0E-03 |
|
0.700 | 1.000 | 21 | 2004 | 2018 | ||||||||
|
0.882 | 0.080 | 12 | 40313976 | missense variant | G/A;C | snv | 4.0E-03; 4.0E-06 |
|
0.700 | 1.000 | 21 | 2004 | 2018 | ||||||||
|
1.000 | 12 | 40323256 | missense variant | T/C | snv | 3.5E-04 | 6.1E-04 |
|
0.700 | 1.000 | 21 | 2004 | 2018 | ||||||||
|
1.000 | 12 | 40314059 | missense variant | C/T | snv | 3.2E-02 | 3.0E-02 |
|
0.700 | 1.000 | 20 | 2004 | 2018 | ||||||||
|
0.925 | 0.040 | 12 | 40298346 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 12 | 40351579 | missense variant | C/T | snv | 4.0E-06 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |