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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 0.860 | 1.000 | 14 | 1989 | 2012 | ||||
|
6 | 0.851 | 0.120 | 19 | 44908756 | missense variant | C/A;T | snv | 1.3E-05; 9.0E-05 | 0.830 | 1.000 | 10 | 1987 | 2012 | ||||
|
8 | 0.827 | 0.120 | 19 | 44908783 | missense variant | C/T | snv | 1.4E-03 | 6.9E-03 | 0.760 | 1.000 | 14 | 1989 | 2014 | |||
|
4 | 0.882 | 0.200 | 19 | 44908774 | missense variant | C/G;T | snv | 6.3E-06 | 0.730 | 1.000 | 12 | 1989 | 2012 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.730 | 1.000 | 3 | 1988 | 1994 | |||
|
2 | 1.000 | 0.080 | 19 | 44907807 | missense variant | G/A | snv | 1.2E-04 | 4.8E-04 | 0.720 | 1.000 | 10 | 1989 | 2012 | |||
|
3 | 0.882 | 0.200 | 19 | 44908784 | missense variant | G/A;C | snv | 6.5E-06 | 0.700 | 1.000 | 9 | 1989 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 44908979 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 44908531 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.700 | 0 | ||||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.100 | 1.000 | 12 | 1987 | 2014 | ||||
|
9 | 0.790 | 0.200 | 19 | 44908705 | missense variant | C/G;T | snv | 6.3E-06 | 0.100 | 0.900 | 10 | 1991 | 2014 | ||||
|
7 | 0.807 | 0.160 | 19 | 11107424 | missense variant | T/A;C;G | snv | 0.030 | 0.667 | 3 | 1994 | 2014 | |||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.020 | 0.500 | 2 | 1995 | 2007 | |||
|
1 | 1.000 | 0.080 | 19 | 44908657 | missense variant | C/A;T | snv | 5.2E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
2 | 0.925 | 0.080 | 15 | 58548387 | missense variant | C/T | snv | 1.0E-03 | 7.5E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.120 | 19 | 44908640 | missense variant | T/G | snv | 4.5E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
4 | 0.882 | 0.160 | 19 | 44909057 | missense variant | T/A | snv | 4.5E-04 | 4.9E-04 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
5 | 0.851 | 0.120 | 19 | 44908730 | missense variant | G/A;C | snv | 1.6E-04; 6.3E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
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 | |||
|
1 | 1.000 | 0.080 | 19 | 11105453 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
1 | 1.000 | 0.080 | 11 | 35189846 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
3 | 0.882 | 0.080 | 19 | 11107511 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1994 | 1994 |