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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv | 0.100 | 0.857 | 14 | 2009 | 2019 | |||||
|
6 | 0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 | 0.100 | 0.846 | 13 | 2011 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.909 | 11 | 2006 | 2018 | |||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.080 | 0.875 | 8 | 2010 | 2020 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.060 | 0.833 | 6 | 2010 | 2019 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.060 | 1.000 | 6 | 2015 | 2020 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.060 | 1.000 | 6 | 2012 | 2018 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.050 | 0.800 | 5 | 2010 | 2020 | ||||
|
11 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 0.050 | 1.000 | 5 | 2013 | 2020 | ||||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.740 | 0.400 | 5 | 1996 | 2016 | ||||
|
2 | 1.000 | 0.080 | 5 | 60206693 | intron variant | A/G | snv | 0.57 | 0.050 | 0.800 | 5 | 2005 | 2020 | ||||
|
2 | 1.000 | 0.080 | 13 | 30734192 | intron variant | T/A;G | snv | 0.040 | 0.750 | 4 | 2011 | 2019 | |||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
12 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 0.730 | 0.750 | 4 | 2008 | 2016 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.040 | 0.750 | 4 | 2013 | 2020 | ||||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.030 | 0.667 | 3 | 2008 | 2016 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.030 | 0.667 | 3 | 2010 | 2015 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.030 | 0.667 | 3 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 111795214 | intron variant | T/C | snv | 0.53 | 0.720 | 1.000 | 3 | 2014 | 2018 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.030 | 1.000 | 3 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 39302834 | intron variant | C/A | snv | 0.030 | 1.000 | 3 | 2010 | 2014 | |||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.030 | 1.000 | 3 | 2006 | 2020 | ||||
|
2 | 0.925 | 0.120 | 5 | 60487490 | intron variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | < 0.001 | 3 | 2006 | 2015 | |||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.720 | 1.000 | 3 | 2015 | 2016 |