Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 7 | 20727052 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 89210327 | missense variant | G/T | snv | 1.2E-03 | 9.8E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 215019657 | missense variant | G/A;T | snv | 1.8E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 20 | 44625622 | missense variant | C/G;T | snv | 1.0E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 8061051 | missense variant | C/T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 15110668 | missense variant | G/A | snv | 3.1E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 8 | 40005362 | missense variant | C/T | snv | 0.48 | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.240 | 12 | 55967046 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 8 | 40015416 | stop gained | T/A | snv | 0.23 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.200 | 15 | 88655497 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.240 | 18 | 22171617 | missense variant | G/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.240 | 3 | 195788569 | missense variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.776 | 0.280 | 1 | 155192274 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |