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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.080 | 19 | 11102718 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.851 | 0.080 | 19 | 11102732 | missense variant | T/C;G | snv | 2.8E-05 | 7.0E-06 | 0.040 | 1.000 | 4 | 1996 | 2001 | |||
|
5 | 0.882 | 0.080 | 19 | 11105429 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.080 | 19 | 11105587 | frameshift variant | C/- | del | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.080 | 19 | 11105587 | missense variant | C/A;G;T | snv | 8.1E-06; 8.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.080 | 19 | 11107436 | stop gained | G/A;T | snv | 4.0E-05 | 0.020 | 1.000 | 2 | 1994 | 1996 | ||||
|
1 | 1.000 | 0.080 | 19 | 11111611 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.080 | 19 | 11111634 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 19 | 11113293 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
9 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.120 | 19 | 11113585 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.827 | 0.120 | 19 | 11113699 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
6 | 0.851 | 0.080 | 19 | 11116883 | stop gained | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
11 | 0.763 | 0.200 | 19 | 11120436 | missense variant | C/A;T | snv | 2.8E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.080 | 19 | 11129654 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
7 | 0.827 | 0.120 | 6 | 16145094 | missense variant | A/G | snv | 0.60 | 0.63 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 8 | 19948248 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.010 | 1.000 | 1 | 1992 | 1992 |