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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.060 | 1.000 | 6 | 2012 | 2015 | |||
|
9 | 0.776 | 0.160 | 17 | 13011692 | missense variant | G/A;C | snv | 0.27 | 0.030 | 0.667 | 3 | 2001 | 2010 | ||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.030 | 1.000 | 3 | 2004 | 2008 | |||
|
19 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
10 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 0.020 | 1.000 | 2 | 2002 | 2008 | |||
|
13 | 0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
9 | 0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 2 | 47478396 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.827 | 0.120 | 13 | 49630641 | missense variant | G/A;C;T | snv | 8.8E-05; 1.9E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.080 | 17 | 12995026 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.790 | 0.120 | 8 | 11802542 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
22 | 0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.120 | 3 | 37050528 | missense variant | G/A;T | snv | 1.2E-03; 2.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.776 | 0.160 | 17 | 12996585 | missense variant | C/T | snv | 3.5E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
15 | 0.732 | 0.240 | 2 | 47799934 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.120 | 3 | 37048559 | missense variant | G/A;T | snv | 1.1E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
17 | 0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 17 | 12994991 | missense variant | G/A | snv | 3.2E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |