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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.080 | 9 | 131190453 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 1993 | 1993 | |||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
8 | 0.776 | 0.080 | 5 | 1400949 | missense variant | T/C | snv | 3.1E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
12 | 0.742 | 0.280 | 16 | 1079872 | missense variant | C/T | snv | 0.54 | 0.50 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
5 | 0.827 | 0.080 | 16 | 1079441 | synonymous variant | G/A | snv | 1.7E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
11 | 0.752 | 0.240 | 16 | 1079010 | missense variant | C/A | snv | 3.7E-02 | 3.7E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.020 | 1.000 | 2 | 1995 | 2003 | |||
|
1 | 1.000 | 0.040 | 4 | 6301521 | missense variant | G/A;T | snv | 9.5E-03; 1.6E-05 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 4 | 6301600 | missense variant | C/T | snv | 7.1E-03 | 2.8E-02 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
2 | 1.000 | 0.040 | 4 | 6301470 | missense variant | G/A;T | snv | 4.0E-03 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
10 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.040 | 18 | 11855801 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.040 | 22 | 23285182 | missense variant | A/G | snv | 0.81 | 0.86 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 18 | 11852183 | 3 prime UTR variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 12 | 47857193 | missense variant | T/A | snv | 5.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
6 | 0.807 | 0.080 | 22 | 50077337 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
6 | 0.807 | 0.080 | 22 | 50079810 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.160 | 18 | 13826392 | missense variant | C/G;T | snv | 2.4E-05; 0.21; 4.0E-06 | 0.23 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 12 | 111327660 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 18 | 13826391 | frameshift variant | -/G | ins | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 12 | 111369695 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2005 | 2005 |