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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.070 | 1.000 | 7 | 2004 | 2016 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.933 | 45 | 2002 | 2019 | ||||
|
3 | 1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.050 | 0.800 | 5 | 2010 | 2018 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.909 | 11 | 2005 | 2013 | ||||
|
2 | 7 | 143268092 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
19 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 0.040 | 0.750 | 4 | 2012 | 2016 | |||
|
19 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 0.030 | 1.000 | 3 | 2014 | 2017 | |||
|
8 | 0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 2 | 202565733 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
43 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2013 | 2016 | ||||
|
11 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
22 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
23 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | |||||
|
42 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2006 | 2015 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.060 | 1.000 | 6 | 2003 | 2019 | |||
|
3 | 0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |