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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.840 | 0.833 | 4 | 2009 | 2017 | ||||
|
2 | 0.851 | 0.160 | 11 | 65784486 | upstream gene variant | A/G | snv | 0.44 | 0.820 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 70872975 | intergenic variant | A/G | snv | 0.16 | 0.710 | 1.000 | 1 | 2015 | 2017 | ||||
|
3 | 0.882 | 0.120 | 3 | 112657461 | intergenic variant | T/C | snv | 0.15 | 0.810 | 1.000 | 1 | 2012 | 2016 | ||||
|
2 | 0.925 | 0.120 | 4 | 122576542 | intergenic variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2015 | 2018 | |||||
|
1 | 1.000 | 0.120 | 11 | 61872101 | downstream gene variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 0.810 | 1.000 | 1 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 19 | 8679120 | downstream gene variant | C/A;G | snv | 0.19 | 0.810 | 1.000 | 1 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 10 | 62789851 | intron variant | T/C;G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 7 | 3089155 | intron variant | T/C | snv | 0.40 | 0.810 | 1.000 | 1 | 2012 | 2016 | ||||
|
4 | 0.851 | 0.200 | 14 | 24518659 | intergenic variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 8 | 6880123 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 8 | 80373657 | intron variant | C/A | snv | 0.54 | 0.710 | 1.000 | 1 | 2015 | 2018 | ||||
|
3 | 0.882 | 0.160 | 14 | 48081576 | intergenic variant | C/A | snv | 0.14 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 11 | 76600576 | intergenic variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 11 | 76567214 | intergenic variant | T/C | snv | 0.59 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 11 | 7946812 | intergenic variant | C/T | snv | 0.35 | 0.810 | 1.000 | 1 | 2012 | 2016 | ||||
|
4 | 0.882 | 0.120 | 13 | 82963398 | intron variant | A/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.200 | 20 | 3670825 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.160 | 7 | 17298523 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
264 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 |