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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.927 | 41 | 1999 | 2017 | ||||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.100 | 0.842 | 38 | 1998 | 2020 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 0.786 | 28 | 1997 | 2015 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.100 | 0.833 | 12 | 2001 | 2017 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.080 | 0.750 | 8 | 2006 | 2019 | ||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.760 | 0.857 | 7 | 2010 | 2018 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.060 | 0.667 | 6 | 2001 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 0.833 | 6 | 2008 | 2015 | |||||
|
5 | 0.882 | 0.040 | 4 | 148152550 | stop gained | G/A;T | snv | 0.060 | 0.833 | 6 | 2000 | 2005 | |||||
|
4 | 0.882 | 0.160 | 4 | 3004316 | missense variant | C/A;G;T | snv | 0.36 | 0.050 | 1.000 | 5 | 2006 | 2017 | ||||
|
16 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 0.050 | 0.800 | 5 | 2012 | 2018 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.050 | 0.800 | 5 | 2011 | 2019 | |||||
|
8 | 0.851 | 0.160 | 10 | 88583080 | missense variant | C/G;T | snv | 0.46 | 0.050 | 0.800 | 5 | 2011 | 2016 | ||||
|
2 | 1.000 | 0.040 | 11 | 57238490 | upstream gene variant | A/G;T | snv | 0.050 | 1.000 | 5 | 2009 | 2016 | |||||
|
1 | 12 | 748335 | upstream gene variant | A/C;T | snv | 0.040 | 1.000 | 4 | 2005 | 2018 | |||||||
|
4 | 0.882 | 0.120 | 4 | 3037423 | missense variant | T/C;G | snv | 0.62 | 0.040 | 1.000 | 4 | 2010 | 2017 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2010 | 2017 | |||||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2013 | 2018 | |||||
|
4 | 0.882 | 0.160 | 2 | 96115728 | missense variant | G/A | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2015 | ||||
|
3 | 1.000 | 0.040 | 1 | 16052230 | missense variant | A/C;T | snv | 8.0E-06; 9.6E-02 | 0.030 | 0.667 | 3 | 2005 | 2009 | ||||
|
1 | 14 | 92932714 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||||
|
4 | 0.882 | 0.160 | 4 | 147535944 | missense variant | C/T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2015 | ||||
|
19 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
13 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2017 |