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 | 10 | 87925544 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 | 0.030 | 1.000 | 3 | 2006 | 2006 | |||
|
17 | 0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 | 0.030 | 1.000 | 3 | 2006 | 2006 | ||||
|
5 | 0.851 | 0.080 | 7 | 6005996 | missense variant | C/A;G;T | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 11 | 35211387 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 7 | 5982849 | missense variant | C/T | snv | 7.6E-04 | 7.1E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
28 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 133652627 | missense variant | G/A | snv | 5.5E-02 | 6.1E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
16 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 47476429 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.160 | 2 | 47410220 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.200 | 7 | 5977589 | missense variant | G/A | snv | 1.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 8 | 16168568 | missense variant | C/A;G;T | snv | 1.6E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 13 | 32337468 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 17 | 43094207 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |