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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
44 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.900 | 0.944 | 32 | 2007 | 2019 | ||||
|
21 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.890 | 1.000 | 9 | 2007 | 2019 | |||||
|
9 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.840 | 0.875 | 4 | 2013 | 2019 | ||||
|
3 | 0.851 | 0.160 | 9 | 22098620 | intron variant | A/G | snv | 0.40 | 0.820 | 1.000 | 2 | 2007 | 2018 | ||||
|
5 | 0.807 | 0.080 | 11 | 103789839 | intron variant | T/A;C | snv | 0.820 | 1.000 | 2 | 2012 | 2018 | |||||
|
1 | 0.925 | 0.080 | 6 | 39207146 | intron variant | T/C | snv | 0.18 | 0.810 | 1.000 | 1 | 2013 | 2018 | ||||
|
5 | 0.827 | 0.120 | 9 | 22103814 | intron variant | A/G | snv | 0.63 | 0.810 | 1.000 | 1 | 2007 | 2018 | ||||
|
2 | 0.882 | 0.120 | 2 | 85582866 | upstream gene variant | C/T | snv | 0.52 | 0.810 | 1.000 | 1 | 2013 | 2018 | ||||
|
2 | 0.882 | 0.120 | 15 | 90873320 | intron variant | C/A;G | snv | 0.810 | 1.000 | 1 | 2013 | 2018 | |||||
|
29 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.810 | 1.000 | 1 | 2013 | 2018 | ||||
|
11 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.810 | 1.000 | 1 | 2013 | 2018 | |||
|
131 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.800 | 0.900 | 19 | 1997 | 2018 | |||
|
25 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.770 | 0.875 | 7 | 2012 | 2019 | ||||
|
15 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.760 | 1.000 | 6 | 2015 | 2019 | ||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.750 | 1.000 | 5 | 2011 | 2019 | ||||
|
10 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.750 | 1.000 | 5 | 2009 | 2018 | |||||
|
7 | 0.776 | 0.120 | 10 | 44280376 | downstream gene variant | C/T | snv | 0.25 | 0.740 | 1.000 | 4 | 2007 | 2019 | ||||
|
6 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 0.740 | 0.600 | 4 | 2011 | 2019 | |||||
|
23 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.730 | 1.000 | 3 | 2010 | 2019 | ||||
|
12 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.730 | 1.000 | 3 | 2009 | 2018 | ||||
|
5 | 0.827 | 0.160 | 6 | 12927312 | intron variant | C/G | snv | 0.27 | 0.730 | 1.000 | 3 | 2013 | 2019 | ||||
|
28 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.730 | 1.000 | 3 | 2012 | 2019 | |||
|
14 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.730 | 1.000 | 3 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.080 | 9 | 22088095 | intron variant | A/G | snv | 0.42 | 0.720 | 1.000 | 2 | 2016 | 2018 | ||||
|
11 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.720 | 1.000 | 2 | 2010 | 2015 |