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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.740 | 1.000 | 7 | 2010 | 2018 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.060 | 0.833 | 6 | 2007 | 2019 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.060 | 0.833 | 6 | 2006 | 2019 | |||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.740 | 1.000 | 6 | 2009 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2020 | |||
|
4 | 0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv | 0.730 | 1.000 | 5 | 2010 | 2018 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.600 | 5 | 2005 | 2020 | |||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2019 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.740 | 1.000 | 4 | 2003 | 2019 | ||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.040 | 0.750 | 4 | 2003 | 2007 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 1.000 | 4 | 2006 | 2016 | |||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.040 | 1.000 | 4 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.200 | 13 | 73342491 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2010 | 2018 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2010 | 2011 | ||||
|
17 | 0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 | 0.720 | 1.000 | 3 | 2015 | 2019 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
6 | 0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 | 0.710 | 1.000 | 3 | 2014 | 2019 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.030 | 1.000 | 3 | 2014 | 2015 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.120 | 13 | 27919860 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.030 | 0.667 | 3 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
8 | 0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
10 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
8 | 0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 | 0.020 | 1.000 | 2 | 2005 | 2006 |