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 | ||||||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 0.500 | 2 | 1993 | 2012 | |||
|
8 | 0.776 | 0.080 | 9 | 131190453 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 1993 | 1993 | |||||
|
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 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 1.000 | 16 | 1997 | 2017 | |||
|
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 | |||
|
31 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.700 | 1.000 | 41 | 2001 | 2018 | |||
|
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 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.050 | 1.000 | 5 | 2003 | 2014 | |||
|
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 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.842 | 38 | 2004 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.833 | 36 | 2004 | 2019 | ||||
|
2 | 0.925 | 0.040 | 4 | 94435177 | intergenic variant | G/A | snv | 0.63 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
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 |