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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.100 | 0.917 | 12 | 2016 | 2019 | |||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.790 | 1.000 | 10 | 2011 | 2019 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.080 | 0.875 | 8 | 2010 | 2014 | |||||
|
7 | 0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 | 0.060 | 1.000 | 6 | 2010 | 2018 | ||||
|
6 | 0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv | 0.060 | 1.000 | 6 | 2010 | 2016 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.600 | 5 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.040 | 19 | 54178800 | missense variant | G/C | snv | 0.040 | 1.000 | 4 | 2016 | 2018 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.040 | 1.000 | 4 | 2015 | 2019 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2015 | 2020 | |||||
|
5 | 0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2018 | ||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.810 | 1.000 | 3 | 2013 | 2018 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.040 | 1 | 219275036 | downstream gene variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 4 | 99574331 | intron variant | G/T | snv | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 22 | 43998522 | intron variant | C/T | snv | 0.20 | 0.810 | 1.000 | 2 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.040 | 22 | 43964127 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 148708086 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2013 | |||||
|
5 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 0.820 | 1.000 | 2 | 2010 | 2014 | ||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.080 | 7 | 35515178 | upstream gene variant | C/G;T | snv | 0.810 | 1.000 | 2 | 2010 | 2015 | |||||
|
8 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
4 | 0.851 | 0.080 | 3 | 148717966 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 148712467 | intron variant | A/G | snv | 0.44 | 0.020 | 1.000 | 2 | 2009 | 2013 |