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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 21 | 43065240 | synonymous variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.040 | 2 | 21038111 | missense variant | C/A;T | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
8 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.040 | 1 | 179126619 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.827 | 0.160 | 8 | 19954234 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2003 | ||||
|
2 | 0.925 | 0.080 | 2 | 112778091 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.040 | 20 | 2988426 | synonymous variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.040 | 19 | 11102673 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
13 | 0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
7 | 0.807 | 0.160 | 9 | 104825752 | missense variant | C/T | snv | 8.2E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
9 | 0.790 | 0.120 | 19 | 11116930 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.120 | 3 | 39412034 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.040 | 19 | 11105229 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
14 | 0.752 | 0.200 | 19 | 11105407 | stop gained | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 3 | 39408672 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
6 | 0.827 | 0.240 | 7 | 95411704 | missense variant | G/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 15 | 99690352 | missense variant | A/G | snv | 7.8E-04 | 8.9E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 15 | 99690412 | missense variant | G/A | snv | 8.3E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 11 | 120307576 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.040 | 4 | 11406961 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
11 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 6 | 46716518 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |