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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.870 | 23 | 1996 | 2019 | |||
|
26 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 0.020 | 0.500 | 2 | 1997 | 2018 | |||
|
1 | 1.000 | 0.080 | 2 | 21032540 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
5 | 0.827 | 0.080 | 12 | 120325936 | missense variant | G/A;C;T | snv | 2.4E-05 | 0.010 | < 0.001 | 1 | 1997 | 1997 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.917 | 24 | 1998 | 2019 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 0.750 | 4 | 1998 | 2014 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.040 | 0.750 | 4 | 1998 | 2014 | |||
|
4 | 0.925 | 0.080 | 20 | 23049378 | missense variant | C/T | snv | 2.0E-03 | 2.5E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
6 | 0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.925 | 0.160 | 3 | 186672838 | missense variant | C/T | snv | 0.38 | 0.43 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.070 | 0.714 | 7 | 1999 | 2014 | |||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 1999 | 2008 | ||||
|
7 | 0.827 | 0.080 | 7 | 80671082 | synonymous variant | C/T | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 1999 | 2001 | ||||
|
7 | 0.827 | 0.080 | 7 | 80671145 | synonymous variant | C/T | snv | 0.030 | 0.667 | 3 | 1999 | 2001 | |||||
|
19 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.020 | 1.000 | 2 | 1999 | 2018 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.020 | 1.000 | 2 | 1999 | 2015 | |||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.020 | 0.500 | 2 | 1999 | 2003 | |||||
|
4 | 0.851 | 0.080 | 3 | 148741190 | missense variant | T/C;G | snv | 4.0E-06; 8.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.080 | 2 | 187466977 | missense variant | C/T | snv | 1.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.070 | 0.857 | 7 | 2000 | 2010 | |||
|
7 | 0.807 | 0.160 | 1 | 169541191 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.050 | 0.800 | 5 | 2001 | 2012 | |||
|
10 | 0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 | 0.040 | 1.000 | 4 | 2001 | 2013 | ||||
|
9 | 0.763 | 0.200 | 17 | 64356203 | missense variant | C/A;T | snv | 0.38 | 0.040 | 1.000 | 4 | 2001 | 2013 |