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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.160 | 10 | 17114074 | missense variant | T/C | snv | 7.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 3 | 142771309 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 19 | 48753131 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 13 | 43415049 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 1.000 | 15 | 2004 | 2018 | ||||
|
1 | 1.000 | 0.120 | 18 | 74521112 | 3 prime UTR variant | T/A;C;G | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.030 | 1.000 | 3 | 2004 | 2007 | ||||
|
1 | 1.000 | 0.120 | 4 | 155712034 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 2 | 43623451 | upstream gene variant | T/A;C | snv | 0.20 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.280 | 1 | 42961547 | intron variant | T/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 18 | 62773567 | intron variant | T/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
3 | 0.882 | 0.200 | 1 | 32861080 | downstream gene variant | G/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 8 | 116961613 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
2 | 0.925 | 0.160 | 12 | 65781114 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
12 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.925 | 0.160 | 22 | 36261386 | intron variant | G/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.320 | 1 | 159714026 | stop gained | G/C | snv | 8.8E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 |