| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 3 | 38551304 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 3 | 38603758 | missense variant | C/T | snv | 2.9E-04 | 2.9E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 20 | 1998 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 |
|
0.800 | 1.000 | 24 | 1998 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 38550602 | missense variant | C/T | snv | 6.0E-05 | 2.8E-05 |
|
0.800 | 1.000 | 21 | 1998 | 2016 | |||||||
|
0.882 | 0.120 | 3 | 38604062 | missense variant | C/A | snv |
|
0.700 | 1.000 | 20 | 1998 | 2016 | |||||||||
|
0.882 | 0.120 | 3 | 38581170 | missense variant | C/A;T | snv | 7.9E-05 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 38597787 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 25 | 1998 | 2017 | ||||||||
|
0.851 | 0.120 | 3 | 38560170 | missense variant | C/T | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
0.851 | 0.120 | 3 | 38550989 | missense variant | A/G | snv |
|
0.800 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 38566465 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||
|
0.882 | 0.120 | 3 | 38581002 | stop gained | C/A;T | snv | 1.1E-04 | 1.5E-04 |
|
0.800 | 1.000 | 21 | 1998 | 2016 | |||||||
|
0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38630327 | stop gained | T/A;C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 3 | 38599001 | missense variant | G/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38551188 | missense variant | G/A;C | snv | 6.0E-05 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
0.925 | 0.120 | 3 | 38633228 | missense variant | C/A;T | snv | 8.0E-06; 2.5E-04 |
|
0.700 | 1.000 | 20 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38633098 | missense variant | A/C | snv | 4.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||
|
0.925 | 0.120 | 3 | 38633058 | missense variant | C/T | snv |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 38630425 | missense variant | A/G | snv |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 38630422 | missense variant | A/C | snv |
|
0.700 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 38630420 | missense variant | C/G;T | snv | 2.0E-05; 2.8E-05 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 38630393 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 38630376 | missense variant | G/A;T | snv | 3.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 21 | 1998 | 2016 |