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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.100 | 0.929 | 14 | 2008 | 2017 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.090 | 1.000 | 9 | 2010 | 2019 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.090 | 0.889 | 9 | 2014 | 2019 | |||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.070 | 1.000 | 7 | 2008 | 2019 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
9 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.030 | 1.000 | 3 | 2017 | 2017 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2012 | 2018 | |||||
|
15 | 0.752 | 0.160 | 11 | 27678578 | intron variant | C/T | snv | 0.82 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.030 | 0.667 | 3 | 2013 | 2017 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.020 | 0.500 | 2 | 2010 | 2010 | ||||
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.020 | 0.500 | 2 | 2009 | 2015 | ||||
|
5 | 0.882 | 0.080 | 9 | 84668501 | upstream gene variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2019 | |||||
|
5 | 0.882 | 0.120 | 11 | 58624189 | synonymous variant | C/T | snv | 0.020 | 1.000 | 2 | 2006 | 2009 | |||||
|
6 | 0.827 | 0.120 | 12 | 84170289 | intron variant | G/A | snv | 0.52 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | 0.500 | 2 | 2010 | 2019 | ||||
|
14 | 0.752 | 0.160 | 5 | 161701908 | 3 prime UTR variant | C/T | snv | 0.51 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
18 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 0.020 | 1.000 | 2 | 2012 | 2014 |