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 | 0.080 | 5 | 150054414 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 150056335 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73173651 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73186881 | inframe insertion | -/TAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73217173 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73219182 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 44349552 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 46018704 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 121558698 | missense variant | A/G | snv | 4.0E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73206385 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 121589385 | missense variant | A/G | snv | 6.8E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 35066711 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.900 | 1.000 | 58 | 1991 | 2019 | |||||
|
8 | 0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv | 0.760 | 1.000 | 26 | 1991 | 2016 | |||||
|
9 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 0.730 | 1.000 | 25 | 1991 | 2017 | |||
|
4 | 0.851 | 0.080 | 21 | 25891790 | missense variant | C/T | snv | 0.730 | 1.000 | 23 | 1991 | 2019 | |||||
|
4 | 0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv | 0.710 | 1.000 | 21 | 1991 | 2005 | |||||
|
2 | 0.925 | 0.080 | 21 | 25897605 | missense variant | C/G;T | snv | 0.720 | 1.000 | 21 | 1991 | 2019 | |||||
|
3 | 0.882 | 0.080 | 21 | 25891787 | missense variant | T/A;C | snv | 0.700 | 1.000 | 20 | 1991 | 2004 | |||||
|
3 | 0.882 | 0.080 | 21 | 25891793 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1991 | 2004 | |||||
|
2 | 0.925 | 0.080 | 21 | 25897626 | missense variant | TC/GA | mnv | 0.700 | 1.000 | 3 | 1996 | 2013 | |||||
|
3 | 0.882 | 0.160 | 14 | 73173665 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 1996 | 2016 | |||||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
2 | 0.925 | 0.080 | 1 | 226885669 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 |