| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 0.800 | 1.000 | 22 | 2008 | 2017 | ||||
|
6 | 0.807 | 0.120 | 1 | 11022301 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 19 | 2008 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 11022278 | missense variant | G/C;T | snv | 0.800 | 1.000 | 13 | 2008 | 2012 | |||||
|
15 | 0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 | 0.800 | 1.000 | 13 | 2008 | 2012 | ||||
|
12 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 13 | 2008 | 2012 | ||||
|
3 | 0.925 | 0.080 | 1 | 11022400 | missense variant | C/A | snv | 0.800 | 1.000 | 13 | 2008 | 2012 | |||||
|
3 | 0.882 | 0.080 | 1 | 11022437 | missense variant | A/G | snv | 0.800 | 1.000 | 13 | 2008 | 2012 | |||||
|
7 | 0.790 | 0.200 | 1 | 11022451 | missense variant | G/T | snv | 0.800 | 1.000 | 13 | 2008 | 2012 | |||||
|
3 | 0.882 | 0.080 | 1 | 11022268 | missense variant | G/A;C | snv | 1.6E-05 | 0.800 | 1.000 | 4 | 2008 | 2015 | ||||
|
1 | 1.000 | 1 | 11022404 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 2008 | 2012 | ||||||
|
1 | 1.000 | 1 | 11022413 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 2008 | 2012 | ||||||
|
1 | 1.000 | 1 | 11022492 | missense variant | G/T | snv | 0.700 | 1.000 | 13 | 2008 | 2012 | ||||||
|
2 | 0.925 | 0.080 | 1 | 11022544 | missense variant | T/C;G | snv | 0.700 | 1.000 | 13 | 2008 | 2012 | |||||
|
1 | 1.000 | 1 | 11022545 | missense variant | C/G | snv | 0.700 | 1.000 | 13 | 2008 | 2012 | ||||||
|
1 | 1.000 | 1 | 11022577 | missense variant | A/G | snv | 4.3E-06 | 7.0E-06 | 0.700 | 1.000 | 13 | 2008 | 2012 | ||||
|
1 | 1.000 | 1 | 11022578 | missense variant | A/G | snv | 2.2E-05 | 4.2E-05 | 0.700 | 1.000 | 13 | 2008 | 2012 | ||||
|
1 | 1.000 | 1 | 11022587 | missense variant | C/T | snv | 8.7E-06 | 0.700 | 1.000 | 13 | 2008 | 2012 | |||||
|
2 | 0.925 | 1 | 11023351 | 3 prime UTR variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 11022562 | missense variant | T/G | snv | 0.700 | 0 | |||||||||
|
5 | 0.851 | 0.120 | 1 | 11018836 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 1 | 11022209 | missense variant | A/G | snv | 7.6E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 11022290 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 11022292 | missense variant | G/A;C;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 1 | 11022464 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 11022737 | 3 prime UTR variant | T/C | snv | 4.2E-05 | 0.700 | 0 |