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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 7 | 80656687 | missense variant | C/T | snv | 1.1E-03 | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
24 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 0.020 | 1.000 | 2 | 1998 | 2002 | |||
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
6 | 0.827 | 0.120 | 11 | 14789216 | synonymous variant | A/G | snv | 0.63 | 0.64 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
11 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 0.030 | 1.000 | 3 | 2002 | 2004 | |||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 3 | 12392637 | synonymous variant | A/G | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.882 | 0.120 | 17 | 63497280 | missense variant | C/T | snv | 4.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.827 | 0.080 | 2 | 43813262 | missense variant | G/C | snv | 0.21 | 0.21 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
8 | 0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
14 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.882 | 0.200 | 3 | 10289835 | missense variant | C/T | snv | 7.0E-03 | 7.3E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
11 | 0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
13 | 0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 16 | 20483086 | missense variant | C/G;T | snv | 4.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 17 | 7631341 | missense variant | G/A;C | snv | 2.8E-05; 1.7E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.080 | 1 | 230710026 | synonymous variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.080 | 2 | 25161179 | missense variant | G/C | snv | 2.7E-03 | 2.8E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.790 | 0.200 | 4 | 99583507 | missense variant | T/C | snv | 0.25 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 1 | 230710676 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |