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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 4 | 184084475 | downstream gene variant | C/T | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 11 | 123679999 | downstream gene variant | -/A | delins | 9.2E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 3 | 4989276 | downstream gene variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 8 | 5364506 | downstream gene variant | G/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.050 | 1.000 | 5 | 2010 | 2019 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
4 | 0.851 | 0.040 | 7 | 114083210 | upstream gene variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 1 | 99463578 | upstream gene variant | T/C | snv | 2.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.040 | 12 | 71938373 | upstream gene variant | T/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 11 | 67449378 | upstream gene variant | A/G | snv | 4.5E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 2 | 207627419 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 20 | 48918761 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 1 | 89068655 | upstream gene variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.040 | 14 | 96204324 | upstream gene variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 2 | 241081801 | splice region variant | G/A | snv | 7.6E-02 | 1.0E-01 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 4 | 129115280 | 3 prime UTR variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.200 | 6 | 88141462 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 |