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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2016 | ||||
|
21 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2005 | 2010 | |||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2010 | ||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.240 | X | 101375202 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 1.000 | 0.120 | X | 101358672 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
8 | 0.790 | 0.040 | 21 | 34887018 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 2 | 162039019 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1 | 14 | 22448641 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 12 | 68253559 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.280 | 19 | 41012316 | missense variant | T/C | snv | 5.1E-03 | 2.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.790 | 0.280 | 13 | 20189434 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.080 | 19 | 41016810 | missense variant | C/A;T | snv | 1.2E-04; 8.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 20 | 44625622 | missense variant | C/G;T | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 1.000 | 0.040 | 1 | 207911034 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.776 | 0.080 | 8 | 92017363 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 22 | 39081561 | missense variant | A/G | snv | 5.9E-02 | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 11 | 36592848 | missense variant | G/T | snv | 7.0E-06 | 0.700 | 0 |