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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 7 | 25123996 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2014 | 2019 | |||||
|
3 | 0.925 | 0.080 | 7 | 99760901 | missense variant | A/G | snv | 5.2E-03 | 5.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 4 | 71028147 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.040 | X | 23001200 | missense variant | G/T | snv | 0.15 | 9.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
13 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.776 | 0.320 | 1 | 97699535 | missense variant | T/C | snv | 8.5E-02 | 8.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 1 | 97740403 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
20 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 6 | 79925034 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2015 | 2015 | |||||
|
3 | 1.000 | 12 | 11885968 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.120 | 12 | 11884481 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.120 | 12 | 11885921 | coding sequence variant | GAACA/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.120 | X | 154365245 | missense variant | C/A;G;T | snv | 3.1E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1 | 23798701 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.776 | 0.120 | X | 48792337 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2000 | 2012 | |||||
|
6 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | X | 48794162 | stop lost | T/C | snv | 0.700 | 0 | ||||||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.882 | 0.240 | 1 | 155239655 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 0.700 | 0 |