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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 16 | 19268142 | 3 prime UTR variant | T/C;G | snv | 0.710 | 1.000 | 3 | 2016 | 2019 | |||||
|
4 | 0.925 | 0.120 | 17 | 46172742 | intron variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2009 | 2012 | |||||
|
3 | 0.925 | 0.040 | 17 | 7674900 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2006 | 2010 | |||||
|
3 | 0.882 | 0.080 | 9 | 28717575 | intergenic variant | T/C;G | snv | 0.35 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 18622045 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
13 | 0.724 | 0.480 | 10 | 67883321 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 161350125 | missense variant | T/C;G | snv | 8.0E-06; 2.9E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 17 | 46788237 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 9 | 137140083 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 16 | 89919844 | missense variant | T/C;G | snv | 2.4E-03; 8.2E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 18235996 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
24 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 96375264 | intron variant | T/C;G | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 18 | 9117869 | missense variant | T/C;G | snv | 0.80; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.100 | 0.950 | 20 | 2004 | 2019 | ||||
|
7 | 0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv | 0.100 | 1.000 | 13 | 2003 | 2017 | |||||
|
6 | 0.882 | 0.080 | 4 | 958159 | missense variant | T/C | snv | 0.18 | 0.14 | 0.730 | 1.000 | 6 | 2014 | 2020 | |||
|
1 | 1.000 | 0.040 | 4 | 15724143 | intron variant | T/C | snv | 0.13 | 0.730 | 0.500 | 4 | 2012 | 2019 | ||||
|
4 | 0.851 | 0.120 | 1 | 155239889 | missense variant | T/C | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2014 | 2018 | ||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.040 | 0.500 | 4 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 89790619 | intron variant | T/C | snv | 0.45 | 0.720 | 1.000 | 4 | 2008 | 2018 | ||||
|
9 | 0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv | 0.040 | 1.000 | 4 | 2006 | 2014 | |||||
|
3 | 1.000 | 0.040 | 17 | 45690407 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 4 | 2011 | 2014 |