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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 1.000 | 19 | 2005 | 2019 | |||
|
1 | 1.000 | 5 | 168363199 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 6 | 161785877 | missense variant | G/A | snv | 4.2E-04 | 4.5E-04 | 0.700 | 1.000 | 4 | 2003 | 2018 | |||
|
10 | 0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2018 | ||||
|
4 | 0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 | 0.700 | 1.000 | 4 | 2003 | 2018 | ||||
|
2 | 0.925 | 0.040 | 6 | 161785805 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-04 | 0.700 | 1.000 | 4 | 2003 | 2018 | ||||
|
1 | 1.000 | 20 | 5112983 | missense variant | C/A;T | snv | 6.7E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.160 | 1 | 155235820 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 1 | 11022209 | missense variant | A/G | snv | 7.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2003 | 2017 | |||||
|
4 | 0.851 | 0.080 | 12 | 40320099 | missense variant | T/A | snv | 0.30 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 4 | 89813384 | intron variant | T/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.710 | 1.000 | 2 | 2007 | 2016 | ||||
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.776 | 0.080 | 16 | 55656513 | 5 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 14 | 104773557 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |