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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.900 | 1.000 | 14 | 2007 | 2019 | ||||
|
7 | 0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 | 0.890 | 1.000 | 12 | 2007 | 2018 | ||||
|
3 | 0.882 | 0.160 | 10 | 6060049 | intron variant | C/T | snv | 0.11 | 0.850 | 1.000 | 7 | 2007 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 60993140 | intron variant | C/A;G | snv | 0.850 | 1.000 | 7 | 2009 | 2016 | |||||
|
3 | 0.882 | 0.200 | 1 | 116561593 | intron variant | A/G | snv | 0.19 | 0.820 | 1.000 | 6 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 116558335 | intron variant | A/G | snv | 0.28 | 0.810 | 1.000 | 5 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 10293054 | intron variant | T/C | snv | 0.32 | 0.830 | 1.000 | 4 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 57739473 | intron variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2009 | 2018 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.040 | 0.750 | 4 | 2010 | 2014 | ||||
|
8 | 0.790 | 0.400 | 20 | 54174979 | upstream gene variant | C/T | snv | 0.47 | 0.820 | 1.000 | 4 | 2011 | 2016 | ||||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.040 | 1.000 | 4 | 2006 | 2010 | ||||
|
2 | 0.925 | 0.160 | 6 | 32368410 | intron variant | T/C | snv | 0.83 | 0.810 | 1.000 | 4 | 2007 | 2018 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.040 | 1.000 | 4 | 2015 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 0.500 | 4 | 2007 | 2019 | |||||
|
3 | 0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv | 0.830 | 0.750 | 4 | 2010 | 2017 | |||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
2 | 0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2013 | |||||
|
3 | 0.882 | 0.160 | 6 | 135418217 | intron variant | C/A | snv | 0.28 | 0.810 | 1.000 | 3 | 2011 | 2018 | ||||
|
5 | 0.851 | 0.240 | 10 | 79300560 | intron variant | C/A | snv | 0.27 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 137131771 | intergenic variant | A/G | snv | 0.20 | 0.810 | 1.000 | 3 | 2011 | 2019 | ||||
|
9 | 0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 | 0.810 | 1.000 | 3 | 2011 | 2017 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 59946914 | 3 prime UTR variant | A/G | snv | 0.33 | 0.820 | 1.000 | 3 | 2011 | 2017 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.030 | 0.667 | 3 | 2007 | 2019 | ||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.810 | 1.000 | 3 | 2011 | 2018 |