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 | |||||||
|
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 | |||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 1993 | 1993 | ||||
|
9 | 0.827 | 0.120 | 10 | 89222511 | missense variant | C/G;T | snv | 1.2E-05; 9.1E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.827 | 0.120 | 11 | 75172532 | missense variant | G/A;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 19 | 11120146 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.040 | 19 | 11129527 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
6 | 0.851 | 0.080 | 19 | 11116883 | stop gained | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.080 | 1 | 55058549 | missense variant | C/T | snv | 6.0E-04 | 2.8E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 |