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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.800 | 0.917 | 36 | 2007 | 2018 | |||||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.100 | 0.690 | 29 | 1999 | 2015 | ||||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.800 | 1.000 | 14 | 2002 | 2015 | |||||
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.800 | 0.923 | 13 | 2008 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.727 | 11 | 2004 | 2016 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.090 | 0.778 | 9 | 2006 | 2014 | ||||
|
9 | 0.776 | 0.160 | 17 | 13011692 | missense variant | G/A;C | snv | 0.27 | 0.090 | 1.000 | 9 | 2002 | 2010 | ||||
|
9 | 0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv | 0.740 | 1.000 | 8 | 2008 | 2015 | |||||
|
7 | 0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv | 0.070 | 1.000 | 7 | 2008 | 2017 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.070 | 0.857 | 7 | 2004 | 2017 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.070 | 0.857 | 7 | 2004 | 2018 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.060 | 0.667 | 6 | 2007 | 2016 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.060 | 0.667 | 6 | 2007 | 2016 | |||||
|
9 | 0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv | 0.720 | 1.000 | 6 | 2010 | 2014 | |||||
|
6 | 0.827 | 0.120 | 8 | 16155085 | stop gained | G/A;C | snv | 8.3E-03; 2.8E-05 | 0.060 | 1.000 | 6 | 2004 | 2006 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.060 | 0.667 | 6 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 10 | 110280017 | missense variant | A/C | snv | 0.800 | 1.000 | 5 | 2008 | 2015 | |||||
|
1 | 1.000 | 0.080 | 22 | 28699866 | missense variant | T/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 5 | 2008 | 2015 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.050 | 0.800 | 5 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.080 | 22 | 28699879 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2015 | ||||
|
4 | 0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 | 0.040 | 0.750 | 4 | 2002 | 2011 | ||||
|
8 | 0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 | 0.740 | 1.000 | 4 | 2000 | 2004 | ||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.040 | 1.000 | 4 | 2008 | 2015 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.040 | 0.500 | 4 | 2009 | 2015 | |||||
|
3 | 0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv | 0.730 | 1.000 | 4 | 2008 | 2010 |