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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.800 | 0.947 | 151 | 2007 | 2020 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.837 | 43 | 1997 | 2018 | |||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.900 | 0.905 | 42 | 2008 | 2019 | ||||
|
11 | 0.752 | 0.320 | 2 | 118078449 | regulatory region variant | C/G | snv | 0.70 | 0.100 | 0.667 | 30 | 2006 | 2015 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.900 | 1.000 | 22 | 2007 | 2019 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.900 | 1.000 | 15 | 2007 | 2019 | ||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.100 | 0.923 | 13 | 2009 | 2019 | ||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.890 | 0.800 | 10 | 2010 | 2019 | ||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.890 | 1.000 | 10 | 2007 | 2016 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.100 | 0.900 | 10 | 2008 | 2019 | |||||
|
17 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 0.860 | 0.889 | 9 | 2011 | 2014 | |||||
|
10 | 0.882 | 0.200 | 2 | 634905 | TF binding site variant | T/C | snv | 0.85 | 0.080 | 1.000 | 8 | 2009 | 2019 | ||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.070 | 1.000 | 7 | 2008 | 2018 | |||||
|
16 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.760 | 0.857 | 7 | 2008 | 2018 | ||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.840 | 1.000 | 6 | 2007 | 2012 | |||||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.060 | 1.000 | 6 | 2009 | 2018 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.060 | 1.000 | 6 | 2009 | 2019 | |||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.820 | 0.833 | 6 | 2008 | 2013 | ||||
|
16 | 0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 | 0.060 | 1.000 | 6 | 2010 | 2017 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.050 | 1.000 | 5 | 2013 | 2020 | |||||
|
17 | 0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 | 0.050 | 0.800 | 5 | 2007 | 2015 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.050 | 1.000 | 5 | 2011 | 2015 | ||||
|
10 | 0.925 | 0.120 | 6 | 50835337 | intron variant | A/G | snv | 0.17 | 0.740 | 1.000 | 5 | 2009 | 2015 | ||||
|
2 | 1.000 | 0.080 | 7 | 80672184 | intron variant | G/A | snv | 6.7E-02 | 0.040 | 1.000 | 4 | 2010 | 2018 | ||||
|
18 | 0.695 | 0.400 | 7 | 24283791 | upstream gene variant | T/C | snv | 0.48 | 0.040 | 1.000 | 4 | 2012 | 2015 |