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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 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 | ||||
|
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 | |||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 60072226 | missense variant | G/T | snv | 7.2E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 9 | 84673625 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 11 | 113476233 | upstream gene variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 18 | 77061897 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 78588235 | intron variant | G/C | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.160 | 17 | 45777136 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 17 | 45793781 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 180630561 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |