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 | 1.000 | 15 | 2004 | 2018 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 0.909 | 11 | 1996 | 2009 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 1.000 | 11 | 2000 | 2019 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.070 | 0.714 | 7 | 2007 | 2017 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.050 | 1.000 | 5 | 2013 | 2015 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.030 | 1.000 | 3 | 2004 | 2007 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2010 | 2015 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
7 | 0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
3 | 0.882 | 0.160 | 13 | 109599813 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
10 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
1 | 1.000 | 0.120 | 4 | 155712034 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.200 | 17 | 82750725 | synonymous variant | C/A;G;T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 7 | 37173878 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.120 | 4 | 73404356 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
3 | 0.882 | 0.160 | 15 | 73811619 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 154633286 | intergenic variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 14 | 59192073 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 17134511 | synonymous variant | G/A;C | snv | 0.56 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 8 | 123077286 | intron variant | C/A;G | snv | 0.28; 4.8E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 63496422 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |