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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.040 | 8 | 9326721 | intron variant | G/A | snv | 0.87 | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 16 | 68626662 | downstream gene variant | C/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 12 | 9218736 | intergenic variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 12 | 3648382 | 3 prime UTR variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 8 | 125495066 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 7 | 21480514 | intron variant | G/A | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 1370527 | intron variant | T/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 44618466 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 22 | 17168884 | upstream gene variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 22 | 43946236 | missense variant | A/G | snv | 0.68 | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 21 | 43348682 | intergenic variant | C/T | snv | 0.69 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.120 | 16 | 53782735 | intron variant | G/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.760 | 1.000 | 7 | 2014 | 2019 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.790 | 1.000 | 10 | 2011 | 2019 | ||||
|
6 | 0.882 | 0.080 | 8 | 125467120 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 212072166 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.160 | 19 | 54173307 | upstream gene variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 99583828 | 3 prime UTR variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 22 | 43928796 | intron variant | A/G | snv | 0.56 | 0.59 | 0.030 | 1.000 | 3 | 2012 | 2018 | |||
|
6 | 0.851 | 0.160 | 17 | 17506246 | missense variant | C/T | snv | 0.59 | 0.59 | 0.020 | 1.000 | 2 | 2005 | 2016 | |||
|
3 | 0.925 | 0.080 | 16 | 58707463 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.030 | 1.000 | 3 | 2016 | 2019 |