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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 15 | 60832754 | intron variant | T/G | snv | 0.44 | 0.720 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 117274298 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
2 | 0.925 | 0.040 | 17 | 7001742 | synonymous variant | T/C;G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.120 | 12 | 71958763 | intron variant | T/C;G | snv | 0.82 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 15 | 60834660 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.030 | 0.667 | 3 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 84673625 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 | 11 | 18019049 | 3 prime UTR variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.080 | 3 | 8770725 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 60071532 | missense variant | T/C | snv | 7.2E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 4 | 89762017 | intron variant | T/C | snv | 0.81 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 17 | 63483402 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 7 | 12382283 | intron variant | T/C | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 124005148 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 88216364 | intergenic variant | T/C | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
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 | |||||
|
1 | 1.000 | 0.040 | 7 | 51938719 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.827 | 0.040 | 12 | 71938373 | upstream gene variant | T/A | snv | 0.12 | 0.030 | 0.667 | 3 | 2012 | 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 | 10 | 60072226 | missense variant | G/T | snv | 7.2E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
9 | 0.790 | 0.120 | 17 | 2305605 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 |