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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.080 | 19 | 11107484 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 19 | 11106652 | missense variant | G/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
12 | 0.752 | 0.240 | 19 | 11116928 | missense variant | G/A | snv | 4.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.080 | 19 | 11102774 | stop gained | G/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 19 | 11113292 | missense variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.080 | 19 | 11107436 | stop gained | G/A;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 19 | 11113643 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.080 | 19 | 11129598 | missense variant | C/A;G | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 19 | 11102769 | stop gained | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.100 | 0.917 | 12 | 1991 | 2018 | |||
|
10 | 0.776 | 0.120 | 1 | 55057454 | missense variant | G/A;C;T | snv | 7.2E-05 | 0.100 | 1.000 | 11 | 2004 | 2020 | ||||
|
8 | 0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv | 0.100 | 1.000 | 10 | 2004 | 2020 | |||||
|
10 | 0.776 | 0.120 | 2 | 21006196 | missense variant | G/A | snv | 3.4E-04 | 5.0E-04 | 0.040 | 1.000 | 4 | 1997 | 2000 | |||
|
7 | 0.807 | 0.120 | 1 | 55044016 | missense variant | T/A | snv | 0.030 | 1.000 | 3 | 2007 | 2009 | |||||
|
13 | 0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 | 0.030 | 1.000 | 3 | 2006 | 2009 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.030 | 1.000 | 3 | 2010 | 2017 | |||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.020 | 1.000 | 2 | 2004 | 2008 | ||||
|
9 | 0.776 | 0.120 | 2 | 21006289 | missense variant | G/A | snv | 1.7E-04 | 6.3E-05 | 0.020 | 1.000 | 2 | 1997 | 1999 | |||
|
2 | 1.000 | 0.040 | 7 | 24287362 | intron variant | C/T | snv | 0.97 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 109237224 | synonymous variant | T/A;C;G | snv | 4.0E-06; 0.83 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.020 | 0.500 | 2 | 1993 | 2001 | |||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 19 | 11120186 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |