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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.080 | 1.000 | 8 | 2013 | 2019 | |||
|
8 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 0.840 | 1.000 | 7 | 2008 | 2018 | ||||
|
13 | 0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv | 0.840 | 1.000 | 7 | 2008 | 2014 | |||||
|
5 | 0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv | 0.830 | 1.000 | 6 | 2008 | 2014 | |||||
|
4 | 0.851 | 0.280 | 15 | 69726651 | intron variant | A/G | snv | 0.67 | 0.830 | 1.000 | 6 | 2008 | 2014 | ||||
|
7 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 0.050 | 1.000 | 5 | 2015 | 2018 | |||||
|
7 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 2015 | 2018 | |||||
|
5 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 0.830 | 1.000 | 5 | 2008 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 1.000 | 4 | 2007 | 2015 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2009 | 2012 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 | 0.830 | 1.000 | 3 | 2008 | 2010 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2012 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2019 | |||
|
3 | 0.925 | 0.120 | 6 | 33579060 | intron variant | T/C | snv | 0.74 | 0.820 | 1.000 | 3 | 2012 | 2013 | ||||
|
4 | 0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv | 0.820 | 1.000 | 3 | 2010 | 2012 | |||||
|
3 | 0.925 | 0.120 | 11 | 123484683 | intron variant | A/G | snv | 0.15 | 0.710 | 1.000 | 3 | 2016 | 2018 | ||||
|
4 | 0.851 | 0.200 | 2 | 241431686 | missense variant | C/A;T | snv | 4.1E-06; 9.3E-02 | 0.820 | 1.000 | 3 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 15 | 40111456 | upstream gene variant | C/G | snv | 0.50 | 0.800 | 1.000 | 3 | 2013 | 2017 | ||||
|
5 | 0.827 | 0.240 | 3 | 27736288 | intergenic variant | G/A | snv | 0.59 | 0.700 | 1.000 | 3 | 2016 | 2017 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.120 | 18 | 50317164 | upstream gene variant | A/G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.120 | 16 | 85922065 | 3 prime UTR variant | C/T | snv | 0.40 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 1.000 | 0.120 | 16 | 81912655 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 81928578 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2016 |