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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.850 | 20 | 2006 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.824 | 17 | 2006 | 2019 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.080 | 0.750 | 8 | 2010 | 2019 | |||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.060 | 1.000 | 6 | 2013 | 2019 | |||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.060 | 0.833 | 6 | 2008 | 2019 | |||||
|
2 | 0.925 | 0.120 | 7 | 31095890 | intron variant | C/G | snv | 0.47 | 0.050 | 0.800 | 5 | 2013 | 2017 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.050 | 0.800 | 5 | 2008 | 2019 | ||||
|
5 | 0.827 | 0.040 | 12 | 71938373 | upstream gene variant | T/A | snv | 0.12 | 0.030 | 0.667 | 3 | 2012 | 2019 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.030 | 1.000 | 3 | 2016 | 2019 | |||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.030 | 0.667 | 3 | 2011 | 2012 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2017 | 2020 | |||||
|
3 | 0.882 | 0.160 | 15 | 60832754 | intron variant | T/G | snv | 0.44 | 0.720 | 1.000 | 3 | 2013 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 117274298 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 1.000 | 0.040 | 17 | 59110368 | 3 prime UTR variant | G/A;C;T | snv | 0.020 | 0.500 | 2 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 5 | 76968168 | intron variant | A/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 14 | 95090065 | 3 prime UTR variant | C/A | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 187949717 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 24927877 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 17 | 7001742 | synonymous variant | T/C;G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 12 | 117284536 | intron variant | G/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 17 | 6997526 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |