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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.900 | 0.889 | 18 | 2007 | 2018 | ||||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.840 | 0.929 | 14 | 2010 | 2019 | ||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.090 | 0.889 | 9 | 2007 | 2018 | |||||
|
33 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 0.090 | 0.889 | 9 | 2009 | 2019 | |||||
|
4 | 0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 | 0.820 | 1.000 | 7 | 2010 | 2019 | ||||
|
9 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.840 | 1.000 | 6 | 2010 | 2020 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.060 | 1.000 | 6 | 2012 | 2016 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.060 | 1.000 | 6 | 2010 | 2018 | ||||
|
7 | 0.807 | 0.280 | 7 | 7968245 | intron variant | G/A;C | snv | 0.060 | 0.667 | 6 | 2015 | 2019 | |||||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.820 | 1.000 | 5 | 2010 | 2016 | ||||
|
12 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.720 | 1.000 | 5 | 2010 | 2012 | |||||
|
8 | 0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 5 | 2016 | 2019 | ||||
|
4 | 0.882 | 0.080 | 17 | 39900944 | downstream gene variant | G/A;T | snv | 0.740 | 1.000 | 5 | 2008 | 2018 | |||||
|
4 | 0.882 | 0.080 | 9 | 6209697 | intergenic variant | A/G;T | snv | 0.810 | 1.000 | 5 | 2010 | 2019 | |||||
|
7 | 0.807 | 0.200 | 17 | 39926554 | 5 prime UTR variant | T/C | snv | 0.49 | 0.730 | 1.000 | 4 | 2008 | 2017 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
12 | 0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 | 0.040 | 0.750 | 4 | 2012 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 102337157 | 5 prime UTR variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2011 | 2019 | |||||
|
5 | 0.851 | 0.160 | 7 | 7967878 | 3 prime UTR variant | T/A;C | snv | 0.040 | 0.750 | 4 | 2014 | 2019 | |||||
|
3 | 0.925 | 0.080 | 17 | 39972395 | intron variant | C/T | snv | 0.42 | 0.820 | 1.000 | 4 | 2010 | 2016 | ||||
|
6 | 0.851 | 0.160 | 17 | 39932164 | intron variant | T/A;C | snv | 0.720 | 1.000 | 4 | 2010 | 2013 | |||||
|
5 | 0.827 | 0.160 | 5 | 132634182 | intron variant | T/C | snv | 0.24 | 0.710 | 1.000 | 4 | 2010 | 2016 | ||||
|
12 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.820 | 0.750 | 4 | 2011 | 2018 | ||||
|
12 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 0.720 | 1.000 | 4 | 2010 | 2015 | ||||
|
11 | 0.790 | 0.200 | 17 | 39924659 | intron variant | G/A;C | snv | 0.730 | 1.000 | 4 | 2011 | 2018 |