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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.763 | 0.360 | 17 | 42313892 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.200 | 11 | 614864 | synonymous variant | C/T | snv | 0.83 | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.160 | 11 | 614318 | missense variant | T/C | snv | 0.25 | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
24 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.320 | 9 | 2691186 | regulatory region variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 9 | 120939712 | intergenic variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.400 | 7 | 107689112 | missense variant | T/C | snv | 6.1E-04 | 8.1E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 7 | 107683334 | missense variant | A/C;G | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 8 | 140634077 | intron variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.360 | 12 | 56339747 | synonymous variant | G/A | snv | 4.9E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.160 | 11 | 613208 | missense variant | T/C | snv | 0.25 | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 2 | 203878211 | downstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 17 | 3751686 | missense variant | A/C;G | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 2 | 170829475 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
12 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |